BRCA1 Database

  • BRCA1: NM_007294.3 was used as reference sequence. cDNA number 1 is the “A” of the start codon, and the number of the last base is used for deletions within repetitive bases. For legacy nomenclature (BIC nucleic acid #), mouse over comments icon.
  • Legacy exon numbers are used in this database. Exons after exon 3 are increased by +1 compared to the HGVS/Ensemble nomenclature.
  • Posterior Probability of “>0.99” indicates that the score was not calculated but estimated based on literature findings only.
  • Only variants with well-documented case histories and/or with clear functional data are included
  • Click any Column Header to sort the display. Mouse over Comments icon for additional details
  • “Live Search” any term in the search box, such as “nonsense”, “exon 1”, etc. If you cannot find a variant in this database, use the in silico prediction tool
  • The classifications used in this BRCA database are: 1 (not pathogenic or of no clinical significance); 2 (likely not pathogenic or of little clinical significance); 3 (uncertain); 4 (likely pathogenic); and 5 (definitely pathogenic). See further description of classifications.


variants found

( *Independent Observations )
Location  ▾ Mutation Type Nucleotide Change Protein Change Classification Posterior Probability Reference Secondary Reference Comments
Exon 2 Start Loss c.1A>G p.? 5 - Definitely pathogenic >0.99 Meindl (2002) IJC 97, 472 Lecarpentier (2012) BCR 14, R99
BIC nucleic acid #: 120A>G
PRIOR
  • Position & Align-GVGD:
  • Splicing:
  • Other:
  • Combined:
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs:
chr17:41276113:- chr17:43124096:-
Exon 2 Start Loss c.2T>C p.? 5 - Definitely pathogenic >0.99 Abkevich (2004) JMG 41, 492 Lang (2017) IJC 141, 129
BIC nucleic acid #: 121T>C
PRIOR
  • Position & Align-GVGD:
  • Splicing:
  • Other:
  • Combined:
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs:
chr17:41276112:- chr17:43124095:-
Exon 2 Start Loss c.2T>G p.? 5 - Definitely pathogenic >0.99 Sekine (2001) CCR 7, 3144
BIC nucleic acid #: 121T>G
PRIOR
  • Position & Align-GVGD:
  • Splicing:
  • Other:
  • Combined:
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs:
chr17:41276112:- chr17:43124095:-
Exon 2 Start Loss c.3G>C p.? 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 122G>C
PRIOR
  • Position & Align-GVGD:
  • Splicing:
  • Other:
  • Combined:
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs:
chr17:41276111:- chr17:43124094:-
Exon 2 Start Loss c.3G>T p.? 5 - Definitely pathogenic >0.99 Couch (1996) HUM MUT 8, 8
BIC nucleic acid #: 122G>T
PRIOR
  • Position & Align-GVGD:
  • Splicing:
  • Other:
  • Combined:
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs:
chr17:41276111:- chr17:43124094:-
Exon 2 Nonsense c.8T>G p.L3* 5 - Definitely pathogenic >0.99 Keshavarzi (2012) Fam Cancer 11; 57
BIC nucleic acid #: 127T>G
chr17:41276106:- chr17:43124089:-
Exon 2 Insertion c.13dupG 5 - Definitely pathogenic >0.99 Jernigan (2015) IJGC 25, 1232
BIC nucleic acid #: 132dupG
chr17:41276100-41276101 (-) chr17:43124083-43124084 (-)
Exon 2 Deletion c.17_18delTT 5 - Definitely pathogenic >0.99 Li (2018) IJC,
BIC nucleic acid #: 136_137delTT
chr17:41276096-41276097 (-) chr17:43124079-43124080 (-)
Exon 2 Missense c.19C>G p.R7G 2 - Likely not pathogenic or of little clinical significance 0.002998405 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 138C>G
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing:
  • Other: 0.02
  • Combined: 0.03
Observational data
  • Segregation: 0.2431
  • Pathology: 0.4
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.09724
chr17:41276095:- chr17:43124078:-
Exon 2 Insertion c.32_33insC 5 - Definitely pathogenic >0.99 Szabo (1995) Hum Mol Genet 4; 1811
BIC nucleic acid #: 151_152insC
chr17:41276081-41276082 (-) chr17:43124064-43124065 (-)
Exon 2 Nonsense c.34C>T p.Q12* 5 - Definitely pathogenic >0.99 Adem (2003) Cancer 97; 1
BIC nucleic acid #: 153C>T
chr17:41276080:- chr17:43124063:-
Exon 2 Indel c.38_39delATinsGGG 5 - Definitely pathogenic >0.99 Lim (2009) J Cancer Res Clin Oncol 135; 1593
BIC nucleic acid #: 157_158delATinsGGG
chr17:41276075-41276076 (-) chr17:43124058-43124059 (-)
Exon 2 Missense c.43A>C p.I15L 2 - Likely not pathogenic or of little clinical significance 0.002026338 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 162A>C
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing:
  • Other: 0.02
  • Combined: 0.03
Observational data
  • Segregation:
  • Pathology: 0.3304
  • Sum Family: 0.180213076
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.065651308
chr17:41276071:- chr17:43124054:-
Exon 2 Insertion c.45dupT 5 - Definitely pathogenic >0.99 Seymour (2016) SAMJ 106, 264
BIC nucleic acid #: 164dupT
chr17:41276068-41276069 (-) chr17:43124051-43124052 (-)
Exon 2 Missense c.53T>C p.M18T 5 - Definitely pathogenic 0.998289968 Parsons et al., Hum Mutat, 40:1557-1578, 2019 Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
Easton DF et al., Am J Hum Genet, 81: 873-883, 2007.
BIC nucleic acid #: 172T>C
PRIOR
  • Position & Align-GVGD: 0.66
  • Splicing:
  • Other: 0.02
  • Combined: 0.66
Observational data
  • Segregation: 1.839814285
  • Pathology: 5.2772
  • Sum Family: 25.47861009
  • Co-occurrence: 1.215721465
  • Functional assay:
  • Case Control:
  • Products of LRs: 300.7373426
chr17:41276061:- chr17:43124044:-
Exon 2 Deletion c.53delT 5 - Definitely pathogenic >0.99 Kumar (2020) 3 BIOTECH 10, 47
BIC nucleic acid #: 172delT
chr17:41276061 (-) chr17:43124044 (-)
Exon 2 Nonsense c.55C>T p.Q19* 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 174C>T
chr17:41276059:- chr17:43124042:-
Exon 2 Deletion c.61delA 5 - Definitely pathogenic >0.99 Thirthagiri (2008) Breast Cancer Res 10; R59
BIC nucleic acid #: 180delA
chr17:41276053 (-) chr17:43124036 (-)
Exon 2 Insertion c.62dupT 5 - Definitely pathogenic >0.99 Yassaee (2002) Breast Cancer Res 4; R6
BIC nucleic acid #: 181dupT
chr17:41276051-41276052 (-) chr17:43124034-43124035 (-)
Exon 2 Deletion c.52_64del13 5 - Definitely pathogenic >0.99 de Juan Jimenez (2013) FAM CAN 12, 767
BIC nucleic acid #: 171_183del13
chr17:41276050-41276062 (-) chr17:43124033-43124045 (-)
Exon 2 Deletion c.64_65delTT 5 - Definitely pathogenic >0.99 Fries (2002) Mil Med 167; 99
BIC nucleic acid #: 183_184delTT
chr17:41276049-41276050 (-) chr17:43124032-43124033 (-)
Exon 2 Nonsense c.65T>A p.L22* 5 - Definitely pathogenic >0.99 Apessos (2018) CG 220, 1
BIC nucleic acid #: 184T>A
chr17:41276049:- chr17:43124032:-
Exon 2 Missense c.65T>C p.L22S 5 - Definitely pathogenic 0.994 Sweet K et al., Breast Cancer Res Treat, 119:737-743, 2010. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 184T>C
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.81
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 38.88
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 38.88
chr17:41276049:- chr17:43124032:-
Exon 2 Insertion c.66_67insC 5 - Definitely pathogenic >0.99 Majdak (2005) Eur J Cancer 41; 143
BIC nucleic acid #: 185_186insC
chr17:41276047-41276048 (-) chr17:43124030-43124031 (-)
Exon 2 Insertion c.66dupA 5 - Definitely pathogenic >0.99 Matsushima (1995) Hum Mol Genet 4; 1953
BIC nucleic acid #: 185dupA
chr17:41276047-41276048 (-) chr17:43124030-43124031 (-)
Exon 2 Deletion c.68_69delAG 5 - Definitely pathogenic >0.99 Struewing (1995) Am J Hum Genet 57; 1
Simard (1994) Nat Genet 8; 392
O'Donnell (2008) In Vitro Cell Dev Biol Anim 44: 357 [Functional characterisation]
BIC nucleic acid #: 187_188delAG
chr17:41276045-41276046 (-) chr17:43124028-43124029 (-)
Exon 2 Insertion c.68dupA 5 - Definitely pathogenic >0.99 Dong (1998) Hum Genet 103; 154
BIC nucleic acid #: 187dupA
chr17:41276045-41276046 (-) chr17:43124028-43124029 (-)
Exon 2 Insertion c.68_69dupAG 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 187_188dupAG
chr17:41276044-41276045 (-) chr17:43124027-43124028 (-)
Exon 2 Deletion c.72_73delTC 5 - Definitely pathogenic >0.99 Takahashi (1995) Cancer Res 55; 2998
BIC nucleic acid #: 191_192delTC
chr17:41276041-41276042 (-) chr17:43124024-43124025 (-)
Exon 2 Insertion c.70_73dup4 5 - Definitely pathogenic >0.99 Díez (1999) Int J Cancer 83: 465 [Additional report]
BIC nucleic acid #: 189_192dup4
chr17:41276040-41276041 (-) chr17:43124023-43124024 (-)
Exon 2 Deletion c.70_80del11 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 189_199del11
chr17:41276034-41276044 (-) chr17:43124017-43124027 (-)
Exon 2 Insertion c.75_80dup6 p.C27insIC 5 - Definitely pathogenic >0.99 Tworek (1999) Cancer Genet Cytogenet 112; 105
BIC nucleic acid #: 194_199dup6
chr17:41276033-41276034 (-) chr17:43124016-43124017 (-)
Intron 2 Splice Site c.80+1G>A 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 199+1G>A
chr17:41276033:- chr17:43124016:-
Intron 2 Splice Site c.80+1G>T 5 - Definitely pathogenic >0.99 Kang (2015) Breast Cancer Res Treat 151, 157
BIC nucleic acid #: 199+1G>T
chr17:41276033:- chr17:43124016:-
Intron 2 Splice Site c.80+2T>A 5 - Definitely pathogenic >0.99 Sepahi (2019) BMC Cancer 19, 787
BIC nucleic acid #: 199+2T>A
chr17:41276032:- chr17:43124015:-
Intron 2 Splice Site c.80+2T>C 5 - Definitely pathogenic >0.99 Wong-Brown (2015) Breast Cancer Res Treat 150, 71
BIC nucleic acid #: 199+2T>C
chr17:41276032:- chr17:43124015:-
Intron 2 Splice Site c.81-6T>A 5 - Definitely pathogenic >0.99 Vreeswijk (2009) Hum Mutat 30; 107
BIC nucleic acid #: 200-6T>A
chr17:41267802:- chr17:43115785:-
Intron 2 Splice Site c.81-2A>G 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325 Findlay (2018) Nature 562, 217
BIC nucleic acid #: 200-2A>G
chr17:41267798:- chr17:43115781:-
intron 2 Splice Site c.81-2A>C 5 - Definitely pathogenic >0.99 Li (2018) Gynecol Oncol : Findlay (2018) Nature 562, 217
BIC nucleic acid #: 200-2A>C
chr17:41267798:- chr17:43115781:-
Intron 2 Deletion c.81-2delA 5 - Definitely pathogenic >0.99 Martin (2004) Cancer Genet Cytogenet 150; 173
BIC nucleic acid #: 200-2delA
chr17:41267798 (-) chr17:43115781 (-)
Intron 2 Splice Site c.81-1G>A 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369 Findlay (2018) Nature 562, 217
BIC nucleic acid #: 200-1G>A
chr17:41267797:- chr17:43115780:-
Intron 2 Splice Site c.81-1G>C 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 200-1G>C
chr17:41267797:- chr17:43115780:-
Exon 3 Missense c.83T>C p.L28P 3 - Uncertain 0.635896419 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 202T>C
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.04
  • Other: 0.02
  • Combined: 0.81
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.383841549
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.409666085
chr17:41267794:- chr17:43115777:-
Exon 3 Deletion c.83_84delTG 5 - Definitely pathogenic >0.99 Uhrhammer (2008) Int J Med Sci 5; 197
BIC nucleic acid #: 202_203delTG
chr17:41267793-41267794 (-) chr17:43115776-43115777 (-)
Exon 3 Nonsense c.85G>T p.E29* 5 - Definitely pathogenic >0.99 Gonzalez-Angulo (2011) Clin Cancer Res 17; 1082
BIC nucleic acid #: 204G>T
chr17:41267792:- chr17:43115775:-
Exon 3 Nonsense c.89T>A p.L30* 5 - Definitely pathogenic >0.99 John (2007) JAMA 298; 2869
BIC nucleic acid #: 208T>A
chr17:41267788:- chr17:43115771:-
Exon 3 Missense c.110C>A p.T37K 5 - Definitely pathogenic 0.9996 Sweet K et al., Breast Cancer Res Treat, 119:737-743, 2010. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 229C>A
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.81
Observational data
  • Segregation:
  • Pathology: 8.73
  • Sum Family: 72.68
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 634.496
chr17:41267767:- chr17:43115750:-
Exon 3 Deletion c.112_113delAA 5 - Definitely pathogenic >0.99 Friedman (1995) Am J Hum Genet 57; 1284
BIC nucleic acid #: 231_232delAA
chr17:41267764-41267765 (-) chr17:43115747-43115748 (-)
Exon 3 Missense c.115T>C p.C39R 5 - Definitely pathogenic 0.9933 Sweet K et al., Breast Cancer Res Treat, 119:737-743, 2010. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 234T>C
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.81
Observational data
  • Segregation:
  • Pathology: 3.586
  • Sum Family: 9.65
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 34.6049
chr17:41267762:- chr17:43115745:-
Exon 3 Deletion c.117_118delTG 5 - Definitely pathogenic >0.99 Osorio (2000) Br J Cancer 82; 1266
BIC nucleic acid #: 236_237delTG
chr17:41267759-41267760 (-) chr17:43115742-43115743 (-)
Exon 3 Missense c.122A>G p.H41R 5 - Definitely pathogenic 0.995 Whiley PJ, et al., PLoS One, 9:e86836, 2014 Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 241A>G
PRIOR
  • Position & Align-GVGD: 0.29
  • Splicing: 0.02
  • Other: 0
  • Combined: 0.29
Observational data
  • Segregation: 159.17
  • Pathology: 2.95
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 469.55
chr17:41267755:- chr17:43115738:-
Exon 3 Deletion c.122delA 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 241delA
chr17:41267755 (-) chr17:43115738 (-)
Exon 3 Deletion c.124delA 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021 Menéndez (2012) Breast Cancer Res Treat 132: 979 [Functional characterisation]
BIC nucleic acid #: 243delA
chr17:41267753 (-) chr17:43115736 (-)
Exon 3 Missense c.130T>A p.C44S 5 - Definitely pathogenic 0.9984 Sweet K et al., Breast Cancer Res Treat, 119:737-743, 2010. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 249T>A
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.81
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 149.6
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 149.6
chr17:41267747:- chr17:43115730:-
Exon 3 Deletion c.130delT 5 - Definitely pathogenic >0.99 Grzymski (2020) NAT MED 26, 1235
BIC nucleic acid #: 249delT
chr17:41267747 (-) chr17:43115730 (-)
Exon 3 Missense c.131G>A p.C44Y 5 - Definitely pathogenic 0.9972 Sweet K et al., Breast Cancer Res Treat, 119:737-743, 2010. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 250G>A
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.81
Observational data
  • Segregation:
  • Pathology: 2.95
  • Sum Family: 28.25
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 83.3375
chr17:41267746:- chr17:43115729:-
Exon 3 Missense c.131G>T p.C44F 5 - Definitely pathogenic 0.999963582 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 250G>T
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing:
  • Other: 0.02
  • Combined: 0.81
Observational data
  • Segregation: 156.1745
  • Pathology: 41.240528
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 6440.71884
chr17:41267746:- chr17:43115729:-
Exon 3 Splice Site c.132C>T 5 - Definitely pathogenic >0.99 Steffensen (2014) Eur J Hum Genet 22, 1362 Findlay (2018) Nature 562, 217
BIC nucleic acid #: 251C>T
chr17:41267745:- chr17:43115728:-
Exon 3 Missense c.133A>C p.K45Q 1 - Not pathogenic or of no clinical significance 0.0008 Sweet K et al., Breast Cancer Res Treat, 119:737-743, 2010. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 252A>C
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.04
  • Other: 0
  • Combined: 0.03
Observational data
  • Segregation:
  • Pathology: 0.0193
  • Sum Family: 1.344
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.02594
chr17:41267744:- chr17:43115727:-
Exon 3 Deletion c.133_134delAA 5 - Definitely pathogenic >0.99 Couch (1997) N Engl J Med 336; 1409
BIC nucleic acid #: 252_253delAA
chr17:41267743-41267744 (-) chr17:43115726-43115727 (-)
Exon 3 Missense c.134A>C p.K45T 2 - Likely not pathogenic or of little clinical significance 0.001772917 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 253A>C
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.04
  • Other: 0.02
  • Combined: 0.04
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.038659242
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.042625587
chr17:41267743:- chr17:43115726:-
Intron 3 Splice Site c.134+1G>A 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 253+1G>A
chr17:41267742:- chr17:43115725:-
Intron 3 Splice Site c.134+1G>T 5 - Definitely pathogenic >0.99 Thirthagiri (2008) Breast Cancer Res 10; R59 Findlay (2018) Nature 562, 217
BIC nucleic acid #: 253+1G>T
chr17:41267742:- chr17:43115725:-
Intron 3 Splice Site c.134+2T>G 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006 Findlay (2018) Nature 562, 217
BIC nucleic acid #: 253+2T>G
chr17:41267741:- chr17:43115724:-
intron 3 Splice Site c.134+2T>C 5 - Definitely pathogenic >0.99 Guacci (2018) J Clin Lab Anal 32:e22418 Findlay (2018) Nature 562, 217
BIC nucleic acid #: 253+2T>C
chr17:41267741:- chr17:43115724:-
Intron 3 Deletion c.134+2delT 5 - Definitely pathogenic >0.99 Toh (2008) PLoS One 3; e2024
BIC nucleic acid #: 253+2delT
chr17:41267741 (-) chr17:43115724 (-)
Exon 3 Indel c.133_134+3del5insT 5 - Definitely pathogenic >0.99 Brose (2004) Genet Test 8; 133
BIC nucleic acid #: 252_253+3del5insT
chr17:41267740-41267744 (-) chr17:43115723-43115727 (-)
Intron 3 Splice Site c.134+3A>C 5 - Definitely pathogenic >0.99 Phelan (2002) Hum Mutat 20; 352 Claes (2003) Genes Chromosomes Cancer 37 314
BIC nucleic acid #: 253+3A>C
chr17:41267740:- chr17:43115723:-
Intron 3 Deletion c.134+3_134+6del4 5 - Definitely pathogenic >0.99 Caligo (1996) Oncogene 13; 1483 Colombo (2013) PLoS One 8: e57173 [Functional characterisation]
BIC nucleic acid #: 253+3_253+6del4
chr17:41267737-41267740 (-) chr17:43115720-43115723 (-)
Intron 3 Splice Site c.135-2A>G 5 - Definitely pathogenic >0.99 Wong-Brown (2015) Breast Cancer Res Treat 150, 71 Findlay (2018) Nature 562, 217
BIC nucleic acid #: 254-2A>G
chr17:41258552:- chr17:43106535:-
Intron 3 Splice Site c.135-2A>C 5 - Definitely pathogenic >0.99 Arai (2018) JHG 63, 447 Findlay (2018) Nature 562, 217
BIC nucleic acid #: 254-2A>C
chr17:41258552:- chr17:43106535:-
Intron 3 Splice Site c.135-1G>A 5 - Definitely pathogenic >0.99 Carter (2018) Gynecol Oncol 151, 481 Findlay (2018) Nature 562, 217
BIC nucleic acid #: 254-1G>A
chr17:41258551:- chr17:43106534:-
Intron 3 Splice Site c.135-1G>C 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 254-1G>C
chr17:41258551:- chr17:43106534:-
Intron 3 Splice Site c.135-1G>T 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242 Findlay (2018) Nature 562, 217
BIC nucleic acid #: 254-1G>T
chr17:41258551:- chr17:43106534:-
Exon 5 Deletion c.139delT 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 258delT
chr17:41258546 (-) chr17:43106529 (-)
Exon 5 Missense c.140G>A p.C47Y 5 - Definitely pathogenic 0.999999713 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 259G>A
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing:
  • Other: 0.02
  • Combined: 0.81
Observational data
  • Segregation: 13545
  • Pathology: 60.31
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 816898.95
chr17:41258545:- chr17:43106528:-
Exon 5 Nonsense c.141C>A p.C47* 5 - Definitely pathogenic >0.99 Dong (2018) HUM MUT 39, 1442
BIC nucleic acid #: 260C>A
chr17:41258544:- chr17:43106527:-
Exon 5 Deletion c.143delT 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 262delT
chr17:41258542 (-) chr17:43106525 (-)
Exon 5 Deletion c.144delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 263delG
chr17:41258541 (-) chr17:43106524 (-)
Exon 5 Missense c.154C>A p.L52I 2 - Likely not pathogenic or of little clinical significance 0.004114034 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 273C>A
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing:
  • Other: 0.02
  • Combined: 0.03
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.125149957
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.133569941
chr17:41258531:- chr17:43106514:-
Exon 5 Missense c.154C>T p.L52F 3 - Uncertain 0.125674152 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 273C>T
PRIOR
  • Position & Align-GVGD: 0.29
  • Splicing:
  • Other: 0.02
  • Combined: 0.29
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.215947303
  • Co-occurrence: 1.629615745
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.351911125
chr17:41258531:- chr17:43106514:-
Exon 5 Nonsense c.160C>T p.Q54* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 279C>T
chr17:41258525:- chr17:43106508:-
Exon 5 Deletion c.160delC 5 - Definitely pathogenic >0.99 Evans (2003) J Med Genet 40; e107
BIC nucleic acid #: 279delC
chr17:41258525 (-) chr17:43106508 (-)
Exon 5 Missense c.172C>G p.P58A 2 - Likely not pathogenic or of little clinical significance 0.014928405 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 291C>G
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing:
  • Other: 0.02
  • Combined: 0.03
Observational data
  • Segregation:
  • Pathology: 0.49
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.49
chr17:41258513:- chr17:43106496:-
Exon 5 Nonsense c.178C>T p.Q60* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 297C>T
chr17:41258507:- chr17:43106490:-
Exon 5 Deletion c.178_179delCA 5 - Definitely pathogenic >0.99 Vaidyanathan (2009) J Biosci 34; 415
BIC nucleic acid #: 297_298delCA
chr17:41258506-41258507 (-) chr17:43106489-43106490 (-)
Exon 5 Missense c.181T>G p.C61G 5 - Definitely pathogenic 0.9998 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 300T>G
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.81
Observational data
  • Segregation:
  • Pathology: 8.703
  • Sum Family: 147.7
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 1285.43
chr17:41258504:- chr17:43106487:-
Exon 5 Missense c.181T>A p.C61G 4 - Likely Pathogenic 0.956784356 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 300T>A
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing:
  • Other: 0.02
  • Combined: 0.81
Observational data
  • Segregation: 1.3923
  • Pathology: 3.73
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 5.193279
chr17:41258504:- chr17:43106487:-
Exon 5 Deletion c.182_183delGT 5 - Definitely pathogenic >0.99 Papi (2009) Breast Cancer Res Treat 117; 497
BIC nucleic acid #: 301_302delGT
chr17:41258502-41258503 (-) chr17:43106485-43106486 (-)
Exon 5 Deletion c.185delC 5 - Definitely pathogenic >0.99 Holter (2015) JCO 33, 3124
BIC nucleic acid #: 304delC
chr17:41258500 (-) chr17:43106483 (-)
Exon 5 Insertion c.187_188insA 5 - Definitely pathogenic >0.99 Alvarez (2017) ONCTARG 8, 74233
BIC nucleic acid #: 306_307insA
chr17:41258497-41258498 (-) chr17:43106480-43106481 (-)
Exon 5 Nonsense c.188T>A p.L63* 5 - Definitely pathogenic >0.99 Inoue (1995) Cancer Res 55; 3521
BIC nucleic acid #: 307T>A
chr17:41258497:- chr17:43106480:-
Exon 5 Insertion c.185_189dup5 5 - Definitely pathogenic >0.99 Teixeira (2018) EJHG 26, 848
BIC nucleic acid #: 304_308dup5
chr17:41258495-41258496 (-) chr17:43106478-43106479 (-)
Exon 5 Insertion c.189dupA 5 - Definitely pathogenic >0.99 Gallardo (2006) Breast Cancer Res Treat 95; 81
BIC nucleic acid #: 308dupA
chr17:41258495-41258496 (-) chr17:43106478-43106479 (-)
Exon 5 Missense c.191G>A p.C64Y 5 - Definitely pathogenic 1 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 310G>A
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing:
  • Other: 0.02
  • Combined: 0.81
Observational data
  • Segregation: 5300394.003
  • Pathology: 189.0906459
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 1002254926
chr17:41258494:- chr17:43106477:-
Exon 5 Nonsense c.192T>A p.C64* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 311T>A
chr17:41258493:- chr17:43106476:-
Exon 5 Deletion c.190_193del4 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 309_312del4
chr17:41258492-41258495 (-) chr17:43106475-43106478 (-)
Exon 5 Deletion c.195delG 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 314delG
chr17:41258490 (-) chr17:43106473 (-)
Exon 5 Missense c.199G>T p.D67Y 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 318G>T
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.03
Observational data
  • Segregation: 0.0832
  • Pathology:
  • Sum Family: 0.00059
  • Co-occurrence: 1.91
  • Functional assay:
  • Case Control:
  • Products of LRs: 9.38E-05
chr17:41258486:- chr17:43106469:-
Exon 5 Missense c.203T>A p.I68K 3 - Uncertain 0.822262834 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 322T>A
PRIOR
  • Position & Align-GVGD: 0.66
  • Splicing:
  • Other: 0.02
  • Combined: 0.66
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 2.306897919
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 2.383237871
chr17:41258482:- chr17:43106465:-
Exon 5 Deletion c.203_204delTA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 322_323delTA
chr17:41258481-41258482 (-) chr17:43106464-43106465 (-)
Exon 5 Splice Site c.211A>G 5 - Definitely pathogenic >0.99 Vega (2001) Hum Mutat 17; 520 Menendez (2012) Breast Cancer Res Treat 132: 979 [Functional characterisation]
BIC nucleic acid #: 330A>G
chr17:41258474:- chr17:43106457:-
Exon 5 Missense c.211A>G p.R71G 5 - Definitely pathogenic 0.99938835 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 330A>G
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.34
  • Other: 0.02
  • Combined: 0.81
Observational data
  • Segregation: 383.2655792
  • Pathology:
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 383.2655792
chr17:41258474:- chr17:43106457:-
Exon 5 Deletion c.211delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 330delA
chr17:41258474 (-) chr17:43106457 (-)
Exon 5 Deletion c.211_212delAG 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 330_331delAG
chr17:41258473-41258474 (-) chr17:43106456-43106457 (-)
Exon 5 Insertion c.211dupA 5 - Definitely pathogenic >0.99 Troudi (2007) J Hum Genet 52; 915
BIC nucleic acid #: 330dupA
chr17:41258473-41258474 (-) chr17:43106456-43106457 (-)
Exon 5 Splice Site c.212G>A 5 - Definitely pathogenic >0.99 Houdayer (2012) Hum Mutat 33, 1228 Findlay (2018) Nature 562, 217
BIC nucleic acid #: 331G>A
chr17:41258473:- chr17:43106456:-
Intron 5 Splice Site c.212+1G>A 5 - Definitely pathogenic >0.99 Friedman (1995) Am J Hum Genet 57; 1284 Sanz (2010) Clin Cancer Res 16: 1957 [Functional characterisation]
BIC nucleic acid #: 331+1G>A
chr17:41258472:- chr17:43106455:-
Intron 5 Splice Site c.212+1G>C 5 - Definitely pathogenic >0.99 Evans (2003) J Med Genet 40; e107 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 331+1G>C
chr17:41258472:- chr17:43106455:-
Intron 5 Splice Site c.212+1G>T 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242 Meindl (2002) Int J Cancer 97: 472 [Additional report]
BIC nucleic acid #: 331+1G>T
chr17:41258472:- chr17:43106455:-
Intron 5 Splice Site c.212+2T>C 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 331+2T>C
chr17:41258471:- chr17:43106454:-
Intron 5 Insertion c.212+2_212+3insG 5 - Definitely pathogenic >0.99 Cherbal (2012) BD 34, 1
BIC nucleic acid #: 331+2_331+3insG
chr17:41258470-41258471 (-) chr17:43106453-43106454 (-)
Intron 5 Splice Site c.213-15A>G 5 - Definitely pathogenic >0.99 Houdayer (2012) Hum Mutat 33, 1228
BIC nucleic acid #: 332-15A>G
chr17:41256988:- chr17:43104971:-
Intron 5 Splice Site c.213-12A>G 5 - Definitely pathogenic >0.99 Hoffman (1998) Am J Med Genet 80; 140 Menendez (2012) Breast Cancer Res Treat 132: 979 [Functional characterisation]
BIC nucleic acid #: 332-12A>G
chr17:41256985:- chr17:43104968:-
Intron 5 Splice Site c.213-11T>G 5 - Definitely pathogenic >0.99 Friedman (1994) Nat Genet 8; 399 Colombo (2013) PLoS One 8: e57173 [Functional characterisation]
BIC nucleic acid #: 332-11T>G
chr17:41256984:- chr17:43104967:-
Intron 5 Splice Site c.213-2A>C 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 332-2A>C
chr17:41256975:- chr17:43104958:-
Intron 5 Splice Site c.213-2A>G 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99 Mucaki (2013) Hum Mutat 34: 557 [Additional report]
BIC nucleic acid #: 332-2A>G
chr17:41256975:- chr17:43104958:-
Intron 5 Splice Site c.213-1G>A 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654 Findlay (2018) Nature 562, 217
BIC nucleic acid #: 332-1G>A
chr17:41256974:- chr17:43104957:-
Exon 6 Nonsense c.220C>T p.Q74* 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 339C>T
chr17:41256966:- chr17:43104949:-
Exon 6 Nonsense c.223G>T p.E75* 5 - Definitely pathogenic >0.99 Cao (2019) BMC C 19,
BIC nucleic acid #: 342G>T
chr17:41256963:- chr17:43104946:-
Exon 6 Deletion c.224_227del4 5 - Definitely pathogenic >0.99 Barnes-Kedar (2018) BCRT 172, 151
BIC nucleic acid #: 343_346del4
chr17:41256959-41256962 (-) chr17:43104942-43104945 (-)
Exon 6 Missense c.230C>T p.T77R 3 - Uncertain 0.895792298 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 349C>T
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing:
  • Other: 0.02
  • Combined: 0.3
Observational data
  • Segregation:
  • Pathology: 16.4493
  • Sum Family: 1.10591011
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 20.05784597
chr17:41256956:- chr17:43104939:-
Exon 6 Nonsense c.232A>T p.R78* 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 351A>T
chr17:41256954:- chr17:43104937:-
Exon 6 Deletion c.232delA 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 351delA
chr17:41256954 (-) chr17:43104937 (-)
Exon 6 Deletion c.237delT 5 - Definitely pathogenic >0.99 Schroeder (2015) BCRT 152, 129
BIC nucleic acid #: 356delT
chr17:41256949 (-) chr17:43104932 (-)
Exon 6 Nonsense c.241C>T p.Q81* 5 - Definitely pathogenic >0.99 Oros (2004) Int J Cancer 112; 411
BIC nucleic acid #: 360C>T
chr17:41256945:- chr17:43104928:-
Exon 6 Deletion c.243delA 5 - Definitely pathogenic >0.99 Bhaskaran (2019) IJC,
BIC nucleic acid #: 362delA
chr17:41256943 (-) chr17:43104926 (-)
Exon 6 Insertion c.244_245insA 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 363_364insA
chr17:41256941-41256942 (-) chr17:43104924-43104925 (-)
Exon 6 Deletion c.246delT 5 - Definitely pathogenic >0.99 Smith (2013) Hum Mutat 34; 1026
BIC nucleic acid #: 365delT
chr17:41256940 (-) chr17:43104923 (-)
Exon 6 Nonsense c.250G>T p.E84* 5 - Definitely pathogenic >0.99 Rummel (2013) Breast Cancer Res Treat 137; 119
BIC nucleic acid #: 369G>T
chr17:41256936:- chr17:43104919:-
Exon 6 Nonsense c.253G>T p.E85* 5 - Definitely pathogenic >0.99 Deng (2019) IJC,
BIC nucleic acid #: 372G>T
chr17:41256933:- chr17:43104916:-
Exon 6 Deletion c.265delA 5 - Definitely pathogenic >0.99 Loizidou (2017) CLIN GENET 91, 611
BIC nucleic acid #: 384delA
chr17:41256921 (-) chr17:43104904 (-)
Exon 6 Deletion c.273delT 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 392delT
chr17:41256913 (-) chr17:43104896 (-)
Exon 6 Deletion c.273_274delTG 5 - Definitely pathogenic >0.99 Alemar (2016) CG 209, 417
BIC nucleic acid #: 392_393delTG
chr17:41256912-41256913 (-) chr17:43104895-43104896 (-)
Exon 6 Indel c.277_279delTTTinsCC 5 - Definitely pathogenic >0.99 Jeong (2017) ONCTARG 8, 61538
BIC nucleic acid #: 396_398delTTTinsCC
chr17:41256907-41256909 (-) chr17:43104890-43104892 (-)
Exon 6 Nonsense c.280C>T p.Q94* 5 - Definitely pathogenic >0.99 Kwong (2016) JMD 18, 580
BIC nucleic acid #: 399C>T
chr17:41256906:- chr17:43104889:-
Exon 6 Deletion c.269_281del13 5 - Definitely pathogenic >0.99 Sarkadi (2019) FRONT GEN 10, 544
BIC nucleic acid #: 388_400del13
chr17:41256905-41256917 (-) chr17:43104888-43104900 (-)
Exon 6 Deletion c.283_286del4 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 402_405del4
chr17:41256900-41256903 (-) chr17:43104883-43104886 (-)
Exon 6 Insertion c.282_288dup7 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 401_407dup7
chr17:41256897-41256898 (-) chr17:43104880-43104881 (-)
Exon 6 Deletion c.290_291delCA 5 - Definitely pathogenic >0.99 Bergman (2005) Fam Cancer 4; 89
BIC nucleic acid #: 409_410delCA
chr17:41256895-41256896 (-) chr17:43104878-43104879 (-)
Intron 6 Splice Site c.301+1G>A 5 - Definitely pathogenic >0.99 Rebbeck (2016) Breast Cancer Res 18: Findlay (2018) Nature 562, 217
BIC nucleic acid #: 420+1G>A
chr17:41256884:- chr17:43104867:-
Intron 6 Splice Site c.302-3C>G 5 - Definitely pathogenic >0.99 Easton (2007) Am J Hum Genet 81; 873 Machackova (2008) BMC Cancer 8: 140
BIC nucleic acid #: 421-3C>G
chr17:41256281:- chr17:43104264:-
Intron 6 Splice Site c.302-2A>C 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 421-2A>C
chr17:41256280:- chr17:43104263:-
Intron 6 Splice Site c.302-2A>G 5 - Definitely pathogenic >0.99 Robertson (2012) Br J Cancer 106; 1234
BIC nucleic acid #: 421-2A>G
chr17:41256280:- chr17:43104263:-
Intron 6 Deletion c.302-2delA 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 421-2delA
chr17:41256280 (-) chr17:43104263 (-)
Intron 6 Splice Site c.302-1G>A 5 - Definitely pathogenic >0.99 Osorio (2003) Eur J Hum Genet 11; 489 Gutiérrez-Enríquez (2009) Breast Cancer Res Treat 117: 461 [Functional characterisation]
BIC nucleic acid #: 421-1G>A
chr17:41256279:- chr17:43104262:-
Intron 6 Splice Site c.302-1G>C 5 - Definitely pathogenic >0.99 Easton (2007) Am J Hum Genet 81; 873 Lindor (2012) Hum Mutat 33: 8 [Additional report]
BIC nucleic acid #: 421-1G>C
chr17:41256279:- chr17:43104262:-
Exon 7 Nonsense c.303T>A p.Y101* 5 - Definitely pathogenic >0.99 Alvarez (2017) ONCTARG 8, 74233
BIC nucleic acid #: 422T>A
chr17:41256277:- chr17:43104260:-
Exon 7 Nonsense c.303T>G p.Y101* 5 - Definitely pathogenic >0.99 Russo (2007) Breast Cancer Res Treat 105; 267
BIC nucleic acid #: 422T>G
chr17:41256277:- chr17:43104260:-
Exon 7 Missense c.305C>G p.A102G 1 - Not pathogenic or of no clinical significance 0.000723806 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 424C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.030160451
  • Co-occurrence: 1.176779436
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.035492198
chr17:41256275:- chr17:43104258:-
Exon 7 Insertion c.310dupA 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC 151, 145
BIC nucleic acid #: 429dupA
chr17:41256269-41256270 (-) chr17:43104252-43104253 (-)
Exon 7 Indel c.311_312delGCins9 5 - Definitely pathogenic >0.99 Wang (2018) ONC LETT 16, 3913
BIC nucleic acid #: 430_431delGCins9
chr17:41256268-41256269 (-) chr17:43104251-43104252 (-)
Exon 7 Missense c.314A>G p.Y105C 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 433A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1.32
  • Pathology:
  • Sum Family: 0.148
  • Co-occurrence: 0.00003
  • Functional assay:
  • Case Control:
  • Products of LRs: 5.86E-06
chr17:41256266:- chr17:43104249:-
Exon 7 Insertion c.315_316insGG 5 - Definitely pathogenic >0.99 Lolas Hamameh (2017) IJC 141, 750
BIC nucleic acid #: 434_435insGG
chr17:41256264-41256265 (-) chr17:43104247-43104248: (-)
Exon 7 Deletion c.317delA 5 - Definitely pathogenic >0.99 Shi (2017) IJC 140, 2051
BIC nucleic acid #: 436delA
chr17:41256263 (-) chr17:43104246 (-)
Exon 7 Deletion c.321delT 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 440delT
chr17:41256259 (-) chr17:43104242 (-)
Exon 7 Deletion c.328_329delAA 5 - Definitely pathogenic >0.99 Deng (2019) IJC,
BIC nucleic acid #: 447_448delAA
chr17:41256251-41256252 (-) chr17:43104234-43104235 (-)
Exon 7 Deletion c.329_330delAG 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 448_449delAG
chr17:41256250-41256251 (-) chr17:43104233-43104234 (-)
Exon 7 Insertion c.329dupA 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 448dupA
chr17:41256250-41256251 (-) chr17:43104233-43104234 (-)
Exon 7 Deletion c.331delG 5 - Definitely pathogenic >0.99 Konstantopoulou (2014) CLIN GENET 85, 36
BIC nucleic acid #: 450delG
chr17:41256249 (-) chr17:43104232 (-)
exon 7 Deletion c.335delA 5 - Definitely pathogenic >0.99 Wang (2015) ANN ONCO 26, 523
BIC nucleic acid #: 454delA
chr17:41256245 (-) chr17:43104228 (-)
Exon 7 Deletion c.335_338del4 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 454_457del4
chr17:41256242-41256245 (-) chr17:43104225-43104228 (-)
Exon 7 Deletion c.342_343delTC p.P115* 5 - Definitely pathogenic >0.99 Negura (2010) Fam Cancer 9; 519
BIC nucleic acid #: 461_462delTC
chr17:41256237-41256238 (-) chr17:43104220-43104221 (-)
Exon 7 Deletion c.346delG 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 465delG
chr17:41256234 (-) chr17:43104217 (-)
Exon 7 Missense c.370A>G p.I124V 1 - Not pathogenic or of no clinical significance 0.00014 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 489A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00617
  • Co-occurrence: 1.1
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00679
chr17:41256210:- chr17:43104193:-
Exon 7 Insertion c.374dupT 5 - Definitely pathogenic >0.99 Cybulski (2019) IJC epub, epub
BIC nucleic acid #: 493dupT
chr17:41256205-41256206 (-) chr17:43104188-43104189 (-)
Exon 7 Insertion c.375_376insT 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 494_495insT
chr17:41256204-41256205 (-) chr17:43104187-43104188 (-)
Exon 7 Nonsense c.376C>T p.Q126* 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 495C>T
chr17:41256204:- chr17:43104187:-
Exon 7 Missense c.380G>A p.S127N 3 - Uncertain 0.07871217 Parsons et al., Hum Mutat, 40:1557-1578, 2019 Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008.
BIC nucleic acid #: 499G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 3.675247381
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 4.186418427
chr17:41256200:- chr17:43104183:-
Exon 7 Indel c.384_385delGGinsC 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 503_504delGGinsC
chr17:41256195-41256196 (-) chr17:43104178-43104179 (-)
Exon 7 Deletion c.386delG 5 - Definitely pathogenic >0.99 Heramb (2018) HCCP 16, 3
BIC nucleic acid #: 505delG
chr17:41256194 (-) chr17:43104177 (-)
Exon 7 Deletion c.387delC 5 - Definitely pathogenic >0.99 Deng (2019) IJC,
BIC nucleic acid #: 506delC
chr17:41256193 (-) chr17:43104176 (-)
Exon 7 Nonsense c.390C>A p.Y130* 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 509C>A
chr17:41256190:- chr17:43104173:-
Exon 7 Missense c.396C>A p.N132K 1 - Not pathogenic or of no clinical significance 0.00017 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 515C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.00479
  • Co-occurrence: 1.698
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00813
chr17:41256184:- chr17:43104167:-
Exon 7 Missense c.397C>T p.R133G 1 - Not pathogenic or of no clinical significance 3.12E-07 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 516C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.0001
  • Pathology: 0.4
  • Sum Family: 0.357939218
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 1.52808E-05
chr17:41256183:- chr17:43104166:-
Exon 7 Missense c.398G>A p.R133H 2 - Likely not pathogenic or of little clinical significance 0.002724453 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 517G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.117517927
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.133862884
chr17:41256182:- chr17:43104165:-
Exon 7 Deletion c.399_400delTG 5 - Definitely pathogenic >0.99 Steinmann (2001) Br J Cancer 85; 850
BIC nucleic acid #: 518_519delTG
chr17:41256180-41256181 (-) chr17:43104163-43104164 (-)
Exon 7 Deletion c.406delA 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 525delA
chr17:41256174 (-) chr17:43104157 (-)
Exon 7 Insertion c.406dupA 5 - Definitely pathogenic >0.99 Werness (2000) J Natl Cancer Inst 92; 1088
BIC nucleic acid #: 525dupA
chr17:41256173-41256174 (-) chr17:43104156-43104157 (-)
Exon 7 Deletion c.405_408del4 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 524_527del4
chr17:41256172-41256175 (-) chr17:43104155-43104158 (-)
Exon 7 Deletion c.410_411delTT 5 - Definitely pathogenic >0.99 Bu (2019) JOGR, 45, 2267
BIC nucleic acid #: 529_530delTT
chr17:41256169-41256170 (-) chr17:43104152-43104153 (-)
Exon 7 Insertion c.411dupT 5 - Definitely pathogenic >0.99 Siraj (2017) HUM GENET 136, 1431
BIC nucleic acid #: 530dupT
chr17:41256168-41256169 (-) chr17:43104151-43104152 (-)
Exon 7 Insertion c.412_413dupCT 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 531_532dupCT
chr17:41256166-41256167 (-) chr17:43104149-43104150 (-)
Exon 7 Nonsense c.415C>T p.Q139* 5 - Definitely pathogenic >0.99 Teixeira (2018) EJHG 26, 848
BIC nucleic acid #: 534C>T
chr17:41256165:- chr17:43104148:-
Exon 7 Deletion c.420_421delTG 5 - Definitely pathogenic >0.99 Zeng (2020) BCRT 181, 465
BIC nucleic acid #: 539_540delTG
chr17:41256159-41256160 (-) chr17:43104142-43104143 (-)
Exon 7 Missense c.425C>A p.P142H 1 - Not pathogenic or of no clinical significance 0 Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 544C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1.7
  • Pathology: 0.0069
  • Sum Family:
  • Co-occurrence: 0.0043
  • Functional assay:
  • Case Control:
  • Products of LRs: 5.04E-05
chr17:41256155:- chr17:43104138:-
Exon 7 Nonsense c.427G>T p.E143* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 546G>T
chr17:41256153:- chr17:43104136:-
Exon 7 Missense c.427G>A p.E143K 1 - Not pathogenic or of no clinical significance 0.00001 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 546G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.0813
  • Pathology:
  • Sum Family: 0.00501
  • Co-occurrence: 1.32
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00054
chr17:41256153:- chr17:43104136:-
Exon 7 Deletion c.431delA 5 - Definitely pathogenic >0.99 Rashid (2006) Int J Cancer 119; 2832
BIC nucleic acid #: 550delA
chr17:41256149 (-) chr17:43104132 (-)
Exon 7 Insertion c.431dupA 5 - Definitely pathogenic >0.99 Feliubadaló(2013) Eur J Hum Genet 21; 864
BIC nucleic acid #: 550dupA
chr17:41256148-41256149 (-) chr17:43104131-43104132 (-)
Exon 7 Deletion c.437_440del4 5 - Definitely pathogenic >0.99 Musolino (2007) Breast 16; 280
BIC nucleic acid #: 556_559del4
chr17:41256140-41256143 (-) chr17:43104123-43104126 (-)
Exon 7 Deletion c.440delT 5 - Definitely pathogenic >0.99 Deng (2019) MGGM 7,
BIC nucleic acid #: 559delT
chr17:41256140 (-) chr17:43104123 (-)
Intron 7 Splice Site c.441+1G>A 5 - Definitely pathogenic >0.99 Chen (2006) Hum Mutat 27; 427 Mucaki (2013) Hum Mutat 34: 557 [Additional report]
BIC nucleic acid #: 560+1G>A
chr17:41256138:- chr17:43104121:-
Intron 7 Splice Site c.441+2T>A 5 - Definitely pathogenic >0.99 Thomassen (2012) Breast Cancer Res Treat 132; 1009
BIC nucleic acid #: 560+2T>A
chr17:41256137:- chr17:43104120:-
Intron 7 Splice Site c.441+2T>G 5 - Definitely pathogenic >0.99 Colombo (2013) PLoS One 8; e57173
BIC nucleic acid #: 560+2T>G
chr17:41256137:- chr17:43104120:-
Intron 7 Deletion c.441+2delT 5 - Definitely pathogenic >0.99 Shi (2017) IJC 140, 2051
BIC nucleic acid #: 560+2delT
chr17:41256137 (-) chr17:43104120 (-)
intron 7 Splice Site c.442-2A>G 5 - Definitely pathogenic >0.99 Palmero (2018) Sci Rep 8:
BIC nucleic acid #: 561-2A>G
chr17:41251899:- chr17:43099882:-
Exon 8 Nonsense c.445G>T p.E149* 5 - Definitely pathogenic >0.99 Heramb (2018) HCCP 16, 3
BIC nucleic acid #: 564G>T
chr17:41251894:- chr17:43099877:-
Exon 8 Indel c.445delGinsAA 5 - Definitely pathogenic >0.99 Shi (2017) IJC 140, 2051
BIC nucleic acid #: 564delGinsAA
chr17:41251894 (-) chr17:43099877 (-)
Exon 8 Deletion c.450delC 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 569delC
chr17:41251889 (-) chr17:43099872 (-)
Exon 8 Missense c.455T>C p.L152P 2 - Likely not pathogenic or of little clinical significance 0.005104767 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 574T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.22802243
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.251416984
chr17:41251884:- chr17:43099867:-
Exon 8 Deletion c.456_457delCA 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 575_576delCA
chr17:41251882-41251883 (-) chr17:43099865-43099866 (-)
Exon 8 Deletion c.457_458delAG 5 - Definitely pathogenic >0.99 Stegel (2011) BMC Med Genet 12; 9
BIC nucleic acid #: 576_577delAG
chr17:41251881-41251882 (-) chr17:43099864-43099865 (-)
Exon 8 Insertion c.457dupA 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 576dupA
chr17:41251881-41251882 (-) chr17:43099864-43099865 (-)
Exon 8 Nonsense c.463C>T p.Q155* 5 - Definitely pathogenic >0.99 Hu (2003) Hum Mutat 22; 104
BIC nucleic acid #: 582C>T
chr17:41251876:- chr17:43099859:-
Exon 8 Missense c.463C>G p.Q155E 1 - Not pathogenic or of no clinical significance 0.00004 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 582C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.537
  • Co-occurrence: 0.00355
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00191
chr17:41251876:- chr17:43099859:-
Exon 8 Deletion c.465delA 5 - Definitely pathogenic >0.99 Dodova (2015) BMC C 15, 523
BIC nucleic acid #: 584delA
chr17:41251874 (-) chr17:43099857 (-)
Exon 8 Missense c.469T>C p.S157P 2 - Likely not pathogenic or of little clinical significance 0.008291213 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 588T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.383841549
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.409666085
chr17:41251870:- chr17:43099853:-
Exon 8 Deletion c.470_471delCT 5 - Definitely pathogenic >0.99 de la Hoya (2001) Int J Cancer 91; 137
BIC nucleic acid #: 589_590delCT
chr17:41251868-41251869 (-) chr17:43099851-43099852 (-)
Exon 8 Deletion c.470_477del8 5 - Definitely pathogenic >0.99 Hu (2008) Zhonghua Yi Xue Za Zhi 88; 2383
BIC nucleic acid #: 589_596del8
chr17:41251862-41251869 (-) chr17:43099845-43099852 (-)
Exon 8 Missense c.478G>C p.G160R 2 - Likely not pathogenic or of little clinical significance 0.002342184 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 597G>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.111351606
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.115036457
chr17:41251861:- chr17:43099844:-
Exon 8 Deletion c.485_486delTG 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 604_605delTG
chr17:41251853-41251854 (-) chr17:43099836-43099837 (-)
Exon 8 Insertion c.485dupT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 604dupT
chr17:41251853-41251854 (-) chr17:43099836-43099837 (-)
Exon 8 Deletion c.488delG 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 607delG
chr17:41251851 (-) chr17:43099834 (-)
Exon 8 Deletion c.493_494delCT 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 612_613delCT
chr17:41251845-41251846 (-) chr17:43099828-43099829 (-)
Exon 8 Insertion c.494dupT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 613dupT
chr17:41251844-41251845 (-) chr17:43099827-43099828 (-)
Exon 8 Deletion c.496delA 5 - Definitely pathogenic >0.99 Oliver (2019) FRONC 9, 1429
BIC nucleic acid #: 615delA
chr17:41251843 (-) chr17:43099826 (-)
Exon 8 Nonsense c.502A>T p.K168* 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 621A>T
chr17:41251837:- chr17:43099820:-
Exon 8 Nonsense c.505C>T p.Q169* 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 624C>T
chr17:41251834:- chr17:43099817:-
Exon 8 Missense c.508C>T p.R170G 1 - Not pathogenic or of no clinical significance 0.000758678 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 627C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.544
  • Sum Family: 0.064077593
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.037203442
chr17:41251831:- chr17:43099814:-
Exon 8 Missense c.509G>A p.R170Q 3 - Uncertain 0.145805876 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 628G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 1.896600838
  • Pathology: 4.41
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 8.364009697
chr17:41251830:- chr17:43099813:-
Exon 8 Deletion c.510delG 5 - Definitely pathogenic >0.99 Heramb (2018) HCCP 16, 3
BIC nucleic acid #: 629delG
chr17:41251829 (-) chr17:43099812 (-)
Exon 8 Insertion c.512dupT 5 - Definitely pathogenic >0.99 Mannan (2016) JHG 61, 515
BIC nucleic acid #: 631dupT
chr17:41251826-41251827 (-) chr17:43099809-43099810 (-)
Exon 8 Nonsense c.514C>T p.Q172* 5 - Definitely pathogenic >0.99 Khoo (2000) Hum Mutat 16; 88
BIC nucleic acid #: 633C>T
chr17:41251825:- chr17:43099808:-
Exon 8 Deletion c.514delC 5 - Definitely pathogenic >0.99 van Orsouw (1999) J Med Genet 36; 747
BIC nucleic acid #: 633delC
chr17:41251825 (-) chr17:43099808 (-)
Exon 8 Deletion c.519delT 5 - Definitely pathogenic >0.99 Zhong (2016) PLOS ONE 11, e0156789
BIC nucleic acid #: 638delT
chr17:41251820 (-) chr17:43099803 (-)
Exon 8 Nonsense c.520C>T p.Q174* 5 - Definitely pathogenic >0.99 Wang (2015) ANN ONCO 26, 523
BIC nucleic acid #: 639C>T
chr17:41251819:- chr17:43099802:-
Exon 8 Deletion c.520delC 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 639delC
chr17:41251819 (-) chr17:43099802 (-)
Exon 8 Missense c.535T>C p.Y179H 2 - Likely not pathogenic or of little clinical significance 0.005959375 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 654T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.29376
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.29376
chr17:41251804:- chr17:43099787:-
Exon 8 Missense c.536A>G p.Y179C 1 - Not pathogenic or of no clinical significance 0 Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 655A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.0007
  • Pathology: 0.143
  • Sum Family:
  • Co-occurrence: 8.49E-07
  • Functional assay:
  • Case Control:
  • Products of LRs: 8.50E-11
chr17:41251803:- chr17:43099786:-
Exon 8 Deletion c.536delA 5 - Definitely pathogenic >0.99 Machado (2007) J Clin Oncol 25; 2027
BIC nucleic acid #: 655delA
chr17:41251803 (-) chr17:43099786 (-)
Exon 8 Indel c.527_538del12insGG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 646_657del12insGG
chr17:41251801-41251812 (-) chr17:43099784-43099795 (-)
Exon 8 Nonsense c.541G>T p.E181* 5 - Definitely pathogenic >0.99 Mehta (2018) CMRES 10, 6505
BIC nucleic acid #: 660G>T
chr17:41251798:- chr17:43099781:-
Exon 8 Insertion c.545dupT 5 - Definitely pathogenic >0.99 Bu (2019) JOGR, 45, 2267
BIC nucleic acid #: 664dupT
chr17:41251793-41251794 (-) chr17:43099776-43099777 (-)
Intron 8 Splice Site c.547+1G>A 5 - Definitely pathogenic >0.99 Ryu (2019) BCRT 173, 385
BIC nucleic acid #: 666+1G>A
chr17:41251791:- chr17:43099774:-
Intron 8 Splice Site c.547+1G>T 5 - Definitely pathogenic >0.99 Evans (2003) J Med Genet 40; e107
BIC nucleic acid #: 666+1G>T
chr17:41251791:- chr17:43099774:-
Intron 8 Splice Site c.547+2T>A 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242 Pyne (1999) Mutat Res 406: 101 [Additional characterisation]
BIC nucleic acid #: 666+2T>A
chr17:41251790:- chr17:43099773:-
Exon 9 Deletion c.548delG 5 - Definitely pathogenic >0.99 Li (2006) Int J Gynecol Cancer 16S1; 172
BIC nucleic acid #: 667delG
chr17:41249306 (-) chr17:43097289 (-)
Exon 9 Missense c.557C>A p.S186Y 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 676C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.13
  • Other: 0
  • Combined: 0.13
Observational data
  • Segregation: 0.00501
  • Pathology:
  • Sum Family: 0.00027
  • Co-occurrence: 0.00029
  • Functional assay:
  • Case Control:
  • Products of LRs: 3.92E-10
chr17:41249297:- chr17:43097280:-
Exon 9 Insertion c.569_570ins4 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 688_699ins4
chr17:41249284-41249285 (-) chr17:43097267-43097268 (-)
Exon 9 Missense c.571G>A p.V191I 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 690G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.0955
  • Pathology:
  • Sum Family: 0.0138
  • Co-occurrence: 0.00589
  • Functional assay:
  • Case Control:
  • Products of LRs: 7.76E-06
chr17:41249283:- chr17:43097266:-
Intron 9 Splice Site c.594-2A>C 5 - Definitely pathogenic >0.99 Scott (2003) Hum Genet 112; 542
BIC nucleic acid #: 713-2A>C
chr17:41247941:- chr17:43095924:-
Intron 9 Splice Site c.594-2A>G 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 713-2A>G
chr17:41247941:- chr17:43095924:-
Exon 10 Deletion c.594_597del4 5 - Definitely pathogenic >0.99 Sawyer (2015) CANCER DIS 5, 135
BIC nucleic acid #: 713_716del4
chr17:41247936-41247939 (-) chr17:43095919-43095922 (-)
Exon 10 Deletion c.604delC 5 - Definitely pathogenic >0.99 Zouk (2019) AJHG 105, 588
BIC nucleic acid #: 723delC
chr17:41247929 (-) chr17:43095912 (-)
Exon 10 Nonsense c.607G>T p.E203* 5 - Definitely pathogenic >0.99 Lolas Hamameh (2017) IJC 141, 750
BIC nucleic acid #: 726G>T
chr17:41247926:- chr17:43095909:-
Exon 10 Nonsense c.616C>T p.Q206* 5 - Definitely pathogenic >0.99 Hu (2003) Hum Mutat 22; 104
BIC nucleic acid #: 735C>T
chr17:41247917:- chr17:43095900:-
Exon 10 Insertion c.624_625ins20 5 - Definitely pathogenic >0.99 Patmasiriwat (2002) Hum Mutat 20; 230
BIC nucleic acid #: 743_744ins20
chr17:41247908-41247909 (-) chr17:43095891-43095892 (-)
Exon 10 Deletion c.667_668delAA 5 - Definitely pathogenic >0.99 Eerola (2005) Breast Cancer Res 7; R93
BIC nucleic acid #: 786_787delAA
chr17:41247865-41247866 (-) chr17:43095848-43095849 (-)
Intron 10 Deletion c.670+1delG 5 - Definitely pathogenic >0.99 Steffensen (2014) EJHG 22, 1362
BIC nucleic acid #: 789+1delG
chr17:41247862 (-) chr17:43095845 (-)
Intron 10 Splice Site c.671-2A>C 5 - Definitely pathogenic >0.99 Keaton (2003) J Hum Genet 48; 399 Xiong (2015) Science 347: 1254806
BIC nucleic acid #: 790-2A>C
chr17:41246879:- chr17:43094862:-
Intron 10 Splice Site c.671-2A>G 5 - Definitely pathogenic >0.99 Whiley (2014) Clin Chem 60, 341
BIC nucleic acid #: 790-2A>G
chr17:41246879:- chr17:43094862:-
Intron 10 Splice Site c.671-1G>A 5 - Definitely pathogenic >0.99 Evans (2003) J Med Genet 40; e107
BIC nucleic acid #: 790-1G>A
chr17:41246878:- chr17:43094861:-
Intron 10 Splice Site c.671-1G>T 5 - Definitely pathogenic >0.99 Mannan (2016) J Hum Genet 61, 515
BIC nucleic acid #: 790-1G>T
chr17:41246878:- chr17:43094861:-
Exon 11 Deletion c.672delT 5 - Definitely pathogenic >0.99 Lerner-Ellis (2020) JCRCO,
BIC nucleic acid #: 791delT
chr17:41246876 (-) chr17:43094859 (-)
Exon 11 Deletion c.676delT 5 - Definitely pathogenic >0.99 Serova (1997) Am J Hum Genet 60; 486
BIC nucleic acid #: 795delT
chr17:41246872 (-) chr17:43094855 (-)
Exon 11 Deletion c.677delG 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 796delG
chr17:41246871 (-) chr17:43094854 (-)
Exon 11 Insertion c.677_678insC 5 - Definitely pathogenic >0.99 Xiaoman (1999) Chin Med Sci J 14; 195
BIC nucleic acid #: 796_797insC
chr17:41246870-41246871 (-) chr17:43094853-43094854 (-)
Exon 11 Nonsense c.678T>A p.C226* 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 797T>A
chr17:41246870:- chr17:43094853:-
Exon 11 Nonsense c.679G>T p.E227* 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 798G>T
chr17:41246869:- chr17:43094852:-
Exon 11 Insertion c.679_680dupGA 5 - Definitely pathogenic >0.99 Nones (2019) ANN ONCO epub, epub
BIC nucleic acid #: 798_799dupGA
chr17:41246867-41246868 (-) chr17:43094850-43094851 (-)
Exon 11 Deletion c.686_687delCT 5 - Definitely pathogenic >0.99 Ng (2016) CLIN GENET 90, 315
BIC nucleic acid #: 805_806delCT
chr17:41246861-41246862 (-) chr17:43094844-43094845 (-)
Exon 11 Nonsense c.688G>T p.E230* 5 - Definitely pathogenic >0.99 Johnston (2012) AJHG 91, 97
BIC nucleic acid #: 807G>T
chr17:41246860:- chr17:43094843:-
Exon 11 Deletion c.689_692del4 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 808_811del4
chr17:41246856-41246859 (-) chr17:43094839-43094842 (-)
Exon 11 Missense c.692C>T p.T231R 3 - Uncertain 0.162017475 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 811C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 6.841208668
  • Co-occurrence: 1.384809842
  • Functional assay:
  • Case Control:
  • Products of LRs: 9.473773094
chr17:41246856:- chr17:43094839:-
Exon 11 Deletion c.697_698delGT 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 816_817delGT
chr17:41246850-41246851 (-) chr17:43094833-43094834 (-)
Exon 11 Deletion c.700delA 5 - Definitely pathogenic >0.99 Arai (2018) JHG 63, 447
BIC nucleic acid #: 819delA
chr17:41246848 (-) chr17:43094831 (-)
Exon 11 Deletion c.704delA 5 - Definitely pathogenic >0.99 Gonzalez-Rivera (2016) BCRT 156, 507
BIC nucleic acid #: 823delA
chr17:41246844 (-) chr17:43094827 (-)
Exon 11 Nonsense c.709G>T p.E237* 5 - Definitely pathogenic >0.99 Lerner-Ellis (2020) JCRCO,
BIC nucleic acid #: 828G>T
chr17:41246839:- chr17:43094822:-
Exon 11 Insertion c.708_711dup4 5 - Definitely pathogenic >0.99 Alhuqail (2018) BCRT, epub
BIC nucleic acid #: 827_830dup4
chr17:41246836-41246837 (-) chr17:43094819-43094820 (-)
Exon 11 Missense c.716A>G p.H239R 1 - Not pathogenic or of no clinical significance 0.000925328 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 835A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.9986
  • Pathology:
  • Sum Family: 0.041217819
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.045383043
chr17:41246832:- chr17:43094815:-
Exon 11 Nonsense c.718C>T p.Q240* 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 837C>T
chr17:41246830:- chr17:43094813:-
Exon 11 Missense c.722C>T p.P241R 2 - Likely not pathogenic or of little clinical significance 0.005305792 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 841C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.252998366
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.261370597
chr17:41246826:- chr17:43094809:-
Exon 11 Deletion c.726delT 5 - Definitely pathogenic >0.99 Ng (2016) CLIN GENET 90, 315
BIC nucleic acid #: 845delT
chr17:41246822 (-) chr17:43094805 (-)
Exon 11 Missense c.736T>G p.L246V 1 - Not pathogenic or of no clinical significance 0 Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 855T>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 2.60E-05
  • Functional assay:
  • Case Control:
  • Products of LRs: 2.60E-05
chr17:41246812:- chr17:43094795:-
Exon 11 Deletion c.737delT 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol 121; 353
BIC nucleic acid #: 856delT
chr17:41246811 (-) chr17:43094794 (-)
Exon 11 Insertion c.742dupA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 861dupA
chr17:41246805-41246806 (-) chr17:43094788-43094789 (-)
Exon 11 Missense c.743C>A p.T248N 3 - Uncertain 0.271662993 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 862C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 17.69111354
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 18.27654853
chr17:41246805:- chr17:43094788:-
Exon 11 Deletion c.744delC 5 - Definitely pathogenic >0.99 Schneegans (2012) Fam Cancer 11; 181
BIC nucleic acid #: 863delC
chr17:41246804 (-) chr17:43094787 (-)
Exon 11 Deletion c.745delA 5 - Definitely pathogenic >0.99 Wong (2015) PLOS ONE 10, e0134408
BIC nucleic acid #: 864delA
chr17:41246803 (-) chr17:43094786 (-)
Exon 11 Deletion c.754delC 5 - Definitely pathogenic >0.99 Yang (2015) PLOS ONE 10,
BIC nucleic acid #: 873delC
chr17:41246794 (-) chr17:43094777 (-)
Exon 11 Nonsense c.763G>T p.E255* 5 - Definitely pathogenic >0.99 Sinilnikova (2006) Fam Cancer 5; 15
BIC nucleic acid #: 882G>T
chr17:41246785:- chr17:43094768:-
Exon 11 Insertion c.768_769insA 5 - Definitely pathogenic >0.99 Al-Mulla (2009) J Clin Pathol 62; 350
BIC nucleic acid #: 887_888insA
chr17:41246779-41246780 (-) chr17:43094762-43094763 (-)
Exon 11 Insertion c.768_769insAG 5 - Definitely pathogenic >0.99 Al-Mulla (2009) J Clin Pathol 62; 350
BIC nucleic acid #: 887_888insAG
chr17:41246779-41246780 (-) chr17:43094762-43094763 (-)
Exon 11 Deletion c.775delG 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 894delG
chr17:41246773 (-) chr17:43094756 (-)
Exon 11 Insertion c.779dupA 5 - Definitely pathogenic >0.99 Mannan (2016) JHG 61, 515
BIC nucleic acid #: 898dupA
chr17:41246768-41246769 (-) chr17:43094751-43094752 (-)
Exon 11 Nonsense c.783T>G p.Y261* 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 902T>G
chr17:41246765:- chr17:43094748:-
Exon 11 Nonsense c.784C>T p.Q262* 5 - Definitely pathogenic >0.99 Rashid (2016) BMC C 16,
BIC nucleic acid #: 903C>T
chr17:41246764:- chr17:43094747:-
Exon 11 Deletion c.784delC 5 - Definitely pathogenic >0.99 Tedaldi (2017) ONCTARG epub, epub
BIC nucleic acid #: 903delC
chr17:41246764 (-) chr17:43094747 (-)
exon 11 Deletion c.788_789delGT 5 - Definitely pathogenic >0.99 Wang (2015) ANN ONCO 26, 523
BIC nucleic acid #: 907_908delGT
chr17:41246759-41246760 (-) chr17:43094742-43094743 (-)
Exon 11 Insertion c.788dupG 5 - Definitely pathogenic >0.99 Cecener (2020) CG 240, 23
BIC nucleic acid #: 907dupG
chr17:41246759-41246760 (-) chr17:43094742-43094743 (-)
Exon 11 Missense c.792T>A p.S264R 2 - Likely not pathogenic or of little clinical significance 0.007763538 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 911T>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.371109079
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.383389834
chr17:41246756:- chr17:43094739:-
Exon 11 Deletion c.791_794del4 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 910_913del4
chr17:41246754-41246757 (-) chr17:43094737-43094740 (-)
Exon 11 Deletion c.794_795delCT 5 - Definitely pathogenic >0.99 Borg (1999) Dis Markers 15; 79
BIC nucleic acid #: 913_914delCT
chr17:41246753-41246754 (-) chr17:43094736-43094737 (-)
Exon 11 Deletion c.798_799delTT 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 917_918delTT
chr17:41246749-41246750 (-) chr17:43094732-43094733 (-)
Exon 11 Insertion c.799dupT 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 918dupT
chr17:41246748-41246749 (-) chr17:43094731-43094732 (-)
Exon 11 Nonsense c.800C>G p.S267* 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 919C>G
chr17:41246748:- chr17:43094731:-
Exon 11 Deletion c.803delA 5 - Definitely pathogenic >0.99 Villarreal-Garza (2015) CANCER 121, 372
BIC nucleic acid #: 922delA
chr17:41246745 (-) chr17:43094728 (-)
Exon 11 Deletion c.809delA 5 - Definitely pathogenic >0.99 Mannan (2016) JHG 61, 515
BIC nucleic acid #: 928delA
chr17:41246739 (-) chr17:43094722 (-)
Exon 11 Missense c.823G>A p.G275S 2 - Likely not pathogenic or of little clinical significance 0.004267425 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 942G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.21
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.21
chr17:41246725:- chr17:43094708:-
Exon 11 Missense c.824G>A p.G275D 2 - Likely not pathogenic or of little clinical significance 0.007695754 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 943G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.274417782
  • Co-occurrence: 1.384809842
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.380016445
chr17:41246724:- chr17:43094707:-
Exon 11 Insertion c.814_824dup11 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 933_943dup11
chr17:41246723-41246724 (-) chr17:43094706-43094707 (-)
Exon 11 Insertion c.815_824dup10 5 - Definitely pathogenic >0.99 Mefford (1999) Am J Hum Genet 65: 575 [Additional characterisation]
BIC nucleic acid #: 934_943dup10
chr17:41246723-41246724 (-) chr17:43094706-43094707 (-)
Exon 11 Missense c.827C>G p.T276R 1 - Not pathogenic or of no clinical significance 4.51E-05 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 946C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.3303
  • Pathology: 0.196
  • Sum Family: 0.029984209
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.002211125
chr17:41246721:- chr17:43094704:-
Exon 11 Insertion c.827_828insT 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 946_947insT
chr17:41246720-41246721 (-) chr17:43094703-43094704 (-)
Exon 11 Deletion c.829_830delAA 5 - Definitely pathogenic >0.99 Hasmad (2015) GYN ONC epub, epub
BIC nucleic acid #: 948_949delAA
chr17:41246718-41246719 (-) chr17:43094701-43094702 (-)
Exon 11 Insertion c.832dupA 5 - Definitely pathogenic >0.99 Lara (2012) BR 45, 117
BIC nucleic acid #: 951dupA
chr17:41246715-41246716 (-) chr17:43094698-43094699 (-)
Exon 11 Insertion c.833_834insA 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 952_953insA
chr17:41246714-41246715 (-) chr17:43094697-43094698 (-)
Exon 11 Deletion c.835delC 5 - Definitely pathogenic >0.99 Zuradelli (2010) Breast Cancer Res Treat 124; 251
BIC nucleic acid #: 954delC
chr17:41246713 (-) chr17:43094696 (-)
Exon 11 Missense c.839C>G p.A280G 1 - Not pathogenic or of no clinical significance 0.00008 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 958C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 1.15
  • Co-occurrence: 0.00324
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00373
chr17:41246709:- chr17:43094692:-
Exon 11 Deletion c.840delC 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC,
BIC nucleic acid #: 959delC
chr17:41246708 (-) chr17:43094691 (-)
Exon 11 Deletion c.841delA 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC,
BIC nucleic acid #: 960delA
chr17:41246707 (-) chr17:43094690 (-)
Exon 11 Insertion c.841_842dupAG 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 960_961dupAG
chr17:41246705-41246706 (-) chr17:43094688-43094689 (-)
Exon 11 Deletion c.843_846del4 5 - Definitely pathogenic >0.99 Wagner (1998) Int J Cancer 77; 354
BIC nucleic acid #: 962_965del4
chr17:41246702-41246705 (-) chr17:43094685-43094688 (-)
Exon 11 Nonsense c.848T>G p.L283* 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 967T>G
chr17:41246700:- chr17:43094683:-
Exon 11 Nonsense c.848T>A p.L283* 5 - Definitely pathogenic >0.99 Heramb (2018) HCCP 16,
BIC nucleic acid #: 967T>A
chr17:41246700:- chr17:43094683:-
Exon 11 Nonsense c.850C>T p.Q284* 5 - Definitely pathogenic >0.99 Seymour (2008) Breast Cancer Res Treat 112; 343
BIC nucleic acid #: 969C>T
chr17:41246698:- chr17:43094681:-
Exon 11 Insertion c.844_850dup7 5 - Definitely pathogenic >0.99 Ozcelik (2003) J Med Genet 40; e91
BIC nucleic acid #: 963_969dup7
chr17:41246697-41246698 (-) chr17:43094680-43094681 (-)
Exon 11 Deletion c.851delA 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 970delA
chr17:41246697 (-) chr17:43094680 (-)
Exon 11 Nonsense c.869T>G p.L290* 5 - Definitely pathogenic >0.99 Susswein (2016) GENET MED 18, 823
BIC nucleic acid #: 988T>G
chr17:41246679:- chr17:43094662:-
Exon 11 Deletion c.869delT 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 988delT
chr17:41246679 (-) chr17:43094662 (-)
Exon 11 Deletion c.875delT 5 - Definitely pathogenic >0.99 Teixeira (2018) EJHG 26, 848
BIC nucleic acid #: 994delT
chr17:41246673 (-) chr17:43094656 (-)
Exon 11 Deletion c.876_879del4 5 - Definitely pathogenic >0.99 Cardoso (2018) HUM GENOM 12, 39
BIC nucleic acid #: 995_998del4
chr17:41246669-41246672 (-) chr17:43094652-43094655 (-)
Exon 11 Deletion c.883delG 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 1002delG
chr17:41246665 (-) chr17:43094648 (-)
Exon 11 Deletion c.885_888del4 5 - Definitely pathogenic >0.99 Adaniel (2019) JG ONCOL 5, 1
BIC nucleic acid #: 1004_1007del4
chr17:41246660-41246663 (-) chr17:43094643-43094646 (-)
Exon 11 Missense c.891G>A p.M297I 1 - Not pathogenic or of no clinical significance 0.00006 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1010G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 1
  • Co-occurrence: 0.00316
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00316
chr17:41246657:- chr17:43094640:-
Exon 11 Missense c.891G>T p.M297I 1 - Not pathogenic or of no clinical significance 0.000632084 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1010G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.989966332
  • Co-occurrence: 0.031305819
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.030991707
chr17:41246657:- chr17:43094640:-
Exon 11 Deletion c.895_896delGT 5 - Definitely pathogenic >0.99 Couch (1997) N Engl J Med 336; 1409
BIC nucleic acid #: 1014_1015delGT
chr17:41246652-41246653 (-) chr17:43094635-43094636 (-)
Exon 11 Insertion c.903_904insC 5 - Definitely pathogenic >0.99 Garcia-Patino (1998) J Clin Oncol 16; 115
BIC nucleic acid #: 1022_1023insC
chr17:41246644-41246645 (-) chr17:43094627-43094628 (-)
Exon 11 Nonsense c.907G>T p.E303* 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC,
BIC nucleic acid #: 1026G>T
chr17:41246641:- chr17:43094624:-
Exon 11 Deletion c.909delA 5 - Definitely pathogenic >0.99 Kumar (2002) Cancer Biol Ther 1; 18
BIC nucleic acid #: 1028delA
chr17:41246639 (-) chr17:43094622 (-)
Exon 11 Insertion c.911dupT 5 - Definitely pathogenic >0.99 Siraj (2017) HUM GENET 136, 1431
BIC nucleic acid #: 1030dupT
chr17:41246636-41246637 (-) chr17:43094619-43094620 (-)
Exon 11 Deletion c.922_923delAG 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 1041_1042delAG
chr17:41246625-41246626 (-) chr17:43094608-43094609 (-)
Exon 11 Deletion c.923delG 5 - Definitely pathogenic >0.99 Maxwell (2017) NAT COMM 8, 319
BIC nucleic acid #: 1042delG
chr17:41246625 (-) chr17:43094608 (-)
Exon 11 Indel c.922_924delAGCinsT p.S308* 5 - Definitely pathogenic >0.99 Seo (2004) Hum Mutat 24; 350
BIC nucleic acid #: 1041_1043delAGCinsT
chr17:41246624-41246626 (-) chr17:43094607-43094609 (-)
Exon 11 Deletion c.923_924delGC 5 - Definitely pathogenic >0.99 Kan (2018) NAT COMM 9, 1725
BIC nucleic acid #: 1042_1043delGC
chr17:41246624-41246625 (-) chr17:43094607-43094608 (-)
Exon 11 Missense c.924C>A p.S308R 3 - Uncertain 0.107180777 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1043C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 5.693907831
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 5.882330841
chr17:41246624:- chr17:43094607:-
Exon 11 Deletion c.924delC 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 1043delC
chr17:41246624 (-) chr17:43094607 (-)
Exon 11 Nonsense c.925A>T p.K309* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1044A>T
chr17:41246623:- chr17:43094606:-
Exon 11 Deletion c.927delA 5 - Definitely pathogenic >0.99 Gadzicki (2009) Cancer Genet Cytogenet 189; 105
BIC nucleic acid #: 1046delA
chr17:41246621 (-) chr17:43094604 (-)
Exon 11 Nonsense c.928C>T p.Q310* 5 - Definitely pathogenic >0.99 Wang (2000) Jpn J Clin Oncol 30; 343
BIC nucleic acid #: 1047C>T
chr17:41246620:- chr17:43094603:-
Exon 11 Deletion c.929delA 5 - Definitely pathogenic >0.99 Friedman (1995) Am J Hum Genet 57; 1284
BIC nucleic acid #: 1048delA
chr17:41246619 (-) chr17:43094602 (-)
Exon 11 Deletion c.930delG 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 1049delG
chr17:41246618 (-) chr17:43094601 (-)
Exon 11 Missense c.932C>T p.P311R 2 - Likely not pathogenic or of little clinical significance 0.003119227 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1051C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.143655352
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.153320363
chr17:41246616:- chr17:43094599:-
Exon 11 Deletion c.929_933del5 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 1048_1052del5
chr17:41246615-41246619 (-) chr17:43094598-43094602 (-)
Exon 11 Deletion c.933delT 5 - Definitely pathogenic >0.99 Juwle (2012) Med Oncol 29; 3272
BIC nucleic acid #: 1052delT
chr17:41246615 (-) chr17:43094598 (-)
Exon 11 Missense c.946A>G p.S316G 1 - Not pathogenic or of no clinical significance 2.21E-06 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1065A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.0135756
  • Pathology: 0.015497798
  • Sum Family: 0.235668619
  • Co-occurrence: 2.184420982
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00010831
chr17:41246602:- chr17:43094585:-
Exon 11 Deletion c.953delA 5 - Definitely pathogenic >0.99 Gabaldo Barrios (2017) FAM CAN,
BIC nucleic acid #: 1072delA
chr17:41246595 (-) chr17:43094578 (-)
Exon 11 Indel c.953delAinsTGT 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC,
BIC nucleic acid #: 1072delAinsTGT
chr17:41246595 (-) chr17:43094578 (-)
Exon 11 Insertion c.953_954insGT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 1072_1073insGT
chr17:41246594-41246595 (-) chr17:43094577-43094578 (-)
exon 11 Insertion c.954dupT 5 - Definitely pathogenic >0.99 Wang (2015) ANN ONCO 26, 523
BIC nucleic acid #: 1073dupT
chr17:41246593-41246594 (-) chr17:43094576-43094577 (-)
Exon 11 Missense c.955A>G p.N319D 2 - Likely not pathogenic or of little clinical significance 0.007039269 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1074A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.336242476
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.347369424
chr17:41246593:- chr17:43094576:-
Exon 11 Insertion c.958_959insAC 5 - Definitely pathogenic >0.99 de Juan Jimenez (2013) FAM CAN 12, 767
BIC nucleic acid #: 1077_1078insAC
chr17:41246589-41246590 (-) chr17:43094572-43094573 (-)
Exon 11 Deletion c.959_960delGA 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 1078_1079delGA
chr17:41246588-41246589 (-) chr17:43094571-43094572 (-)
Exon 11 Deletion c.961delT 5 - Definitely pathogenic >0.99 Khoo (2000) Hum Mutat 16; 88
BIC nucleic acid #: 1080delT
chr17:41246587 (-) chr17:43094570 (-)
Exon 11 Deletion c.961_962delTG 5 - Definitely pathogenic >0.99 Maistro (2016) BMC C 16,
BIC nucleic acid #: 1080_1081delTG
chr17:41246586-41246587 (-) chr17:43094569-43094570 (-)
Exon 11 Nonsense c.962G>A p.W321* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 1081G>A
chr17:41246586:- chr17:43094569:-
Exon 11 Missense c.964G>A p.A322T 2 - Likely not pathogenic or of little clinical significance 0.005925472 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1083G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.26490064
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.292078809
chr17:41246584:- chr17:43094567:-
Exon 11 Missense c.964G>C p.A322P 2 - Likely not pathogenic or of little clinical significance 0.004949383 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1083G>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.213966543
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.243726036
chr17:41246584:- chr17:43094567:-
Exon 11 Deletion c.964delG 5 - Definitely pathogenic >0.99 Smith (2001) Gynecol Oncol 83; 586
BIC nucleic acid #: 1083delG
chr17:41246584 (-) chr17:43094567 (-)
Exon 11 Nonsense c.967G>T p.G323* 5 - Definitely pathogenic >0.99 Wang (2019) CMED 8, 2074
BIC nucleic acid #: 1086G>T
chr17:41246581:- chr17:43094564:-
Exon 11 Deletion c.968delG 5 - Definitely pathogenic >0.99 Kechin (2018) BEBM 165, 94
BIC nucleic acid #: 1087delG
chr17:41246580 (-) chr17:43094563 (-)
Exon 11 Insertion c.969_970insC 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 1088_1089insC
chr17:41246578-41246579 (-) chr17:43094561-43094562 (-)
Exon 11 Deletion c.980_981delCA 5 - Definitely pathogenic >0.99 Palomba (2009) BMC Cancer 9; 245
BIC nucleic acid #: 1099_1100delCA
chr17:41246567-41246568 (-) chr17:43094550-43094551 (-)
Exon 11 Deletion c.981_982delAT 5 - Definitely pathogenic >0.99 Fitzgerald (1996) N Engl J Med 334; 143
BIC nucleic acid #: 1100_1101delAT
chr17:41246566-41246567 (-) chr17:43094549-43094550 (-)
Exon 11 Deletion c.985_986delAA 5 - Definitely pathogenic >0.99 Sauvan (2000) Hum Mutat 17; 154
BIC nucleic acid #: 1104_1105delAA
chr17:41246562-41246563 (-) chr17:43094545-43094546 (-)
Exon 11 Insertion c.986_987dupAT 5 - Definitely pathogenic >0.99 Zhang (2017) BCRT 166, 865
BIC nucleic acid #: 1105_1106dupAT
chr17:41246560-41246561 (-) chr17:43094543-43094544 (-)
Exon 11 Missense c.994C>T p.R332G 2 - Likely not pathogenic or of little clinical significance 0.009608014 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1113C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.417317436
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.475359948
chr17:41246554:- chr17:43094537:-
Exon 11 Missense c.997A>G p.T333A 1 - Not pathogenic or of no clinical significance 1.31E-05 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1116A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.1042
  • Pathology: 0.08
  • Sum Family: 0.074470536
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.000641329
chr17:41246551:- chr17:43094534:-
Exon 11 Missense c.1001C>A p.P334H 2 - Likely not pathogenic or of little clinical significance 0.004267425 Parsons et al., Hum Mutat, 40:1557-1578, 2019 Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008.
BIC nucleic acid #: 1120C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.21
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.21
chr17:41246547:- chr17:43094530:-
Exon 11 Missense c.1001C>T p.P334L 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1120C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.107
  • Pathology:
  • Sum Family: 8.91
  • Co-occurrence: 0.00001
  • Functional assay:
  • Case Control:
  • Products of LRs: 9.53E-06
chr17:41246547:- chr17:43094530:-
Exon 11 Deletion c.1002delC 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 1121delC
chr17:41246546 (-) chr17:43094529 (-)
Exon 11 Deletion c.1008delA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 1127delA
chr17:41246540 (-) chr17:43094523 (-)
Exon 11 Insertion c.1008dupA 5 - Definitely pathogenic >0.99 Reeves (2004) Int J Cancer 110; 677
BIC nucleic acid #: 1127dupA
chr17:41246539-41246540 (-) chr17:43094522-43094523 (-)
Exon 11 Nonsense c.1012A>T p.K338* 5 - Definitely pathogenic >0.99 Alharbi (2005) Genome Res 15; 967
BIC nucleic acid #: 1131A>T
chr17:41246536:- chr17:43094519:-
Exon 11 Missense c.1015A>G p.K339E 3 - Uncertain 0.396782842 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1134A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.64
Observational data
  • Segregation:
  • Pathology: 0.37
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.37
chr17:41246533:- chr17:43094516:-
Exon 11 Deletion c.1016delA 5 - Definitely pathogenic >0.99 Hogervorst (1995) Nat Genet 10; 208
BIC nucleic acid #: 1135delA
chr17:41246532 (-) chr17:43094515 (-)
Exon 11 Insertion c.1016dupA 5 - Definitely pathogenic >0.99 Simard (1994) Nat Genet 8; 392
BIC nucleic acid #: 1135dupA
chr17:41246531-41246532 (-) chr17:43094514-43094515 (-)
Exon 11 Deletion c.1018delG 5 - Definitely pathogenic >0.99 Eccles (1998) Br J Cancer 77; 2199
BIC nucleic acid #: 1137delG
chr17:41246530 (-) chr17:43094513 (-)
Exon 11 Insertion c.1034_1035insC 5 - Definitely pathogenic >0.99 Brovkina (2018) FRONC 8, 421
BIC nucleic acid #: 1153_1154insC
chr17:41246513-41246514 (-) chr17:43094496-43094497 (-)
Exon 11 Missense c.1036C>T p.P346S 2 - Likely not pathogenic or of little clinical significance 0.004267425 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1155C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.21
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.21
chr17:41246512:- chr17:43094495:-
Exon 11 Deletion c.1039delC 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 1158delC
chr17:41246509 (-) chr17:43094492 (-)
Exon 11 Deletion c.1039_1040delCT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 1158_1159delCT
chr17:41246508-41246509 (-) chr17:43094491-43094492 (-)
Exon 11 Deletion c.1040delT 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 1159delT
chr17:41246508 (-) chr17:43094491 (-)
Exon 11 Nonsense c.1054G>T p.E352* 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 1173G>T
chr17:41246494:- chr17:43094477:-
Exon 11 Deletion c.1054delG 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 1173delG
chr17:41246494 (-) chr17:43094477 (-)
Exon 11 Nonsense c.1058G>A p.W353* 5 - Definitely pathogenic >0.99 Hakansson (1997) Am J Hum Genet 60; 1068
BIC nucleic acid #: 1177G>A
chr17:41246490:- chr17:43094473:-
Exon 11 Nonsense c.1059G>A p.W353* 5 - Definitely pathogenic >0.99 Couch (2015) JCO 33, 304
BIC nucleic acid #: 1178G>A
chr17:41246489:- chr17:43094472:-
Exon 11 Nonsense c.1063A>T p.K355* 5 - Definitely pathogenic >0.99 Kadouri (2004) Int J Cancer 108; 399
BIC nucleic acid #: 1182A>T
chr17:41246485:- chr17:43094468:-
Exon 11 Nonsense c.1066C>T p.Q356* 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 1185C>T
chr17:41246482:- chr17:43094465:-
Exon 11 Missense c.1067A>G p.Q356R 1 - Not pathogenic or of no clinical significance 0 Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1186A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Case Control:
  • Products of LRs: <1e-10
chr17:41246481:- chr17:43094464:-
Exon 11 Deletion c.1067delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1186delA
chr17:41246481 (-) chr17:43094464 (-)
Exon 11 Nonsense c.1069A>T p.K357* 5 - Definitely pathogenic >0.99 Wang (2015) ANN ONCO 26, 523
BIC nucleic acid #: 1188A>T
chr17:41246479:- chr17:43094462:-
Exon 11 Deletion c.1072delC 5 - Definitely pathogenic >0.99 Claes (1999) Hum Mutat 13; 256
BIC nucleic acid #: 1191delC
chr17:41246476 (-) chr17:43094459 (-)
Exon 11 Missense c.1075C>T p.P359S 2 - Likely not pathogenic or of little clinical significance 0.001638012 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1194C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.075326371
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.080394266
chr17:41246473:- chr17:43094456:-
Exon 11 Deletion c.1068_1077del10 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 1187_1196del10
chr17:41246471-41246480 (-) chr17:43094454-43094463 (-)
Exon 11 Insertion c.1080_1081insA 5 - Definitely pathogenic >0.99 Ozdag (2000) Eur J Cancer 36; 2076
BIC nucleic acid #: 1199_1200insA
chr17:41246467-41246468 (-) chr17:43094450-43094451 (-)
Exon 11 Missense c.1081T>C p.S361P 2 - Likely not pathogenic or of little clinical significance 0.005223609 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1200T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.225883846
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.257300856
chr17:41246467:- chr17:43094450:-
Exon 11 Nonsense c.1082C>G p.S361* 5 - Definitely pathogenic >0.99 Esteves (2009) Braz J Med Biol Res 42; 453
BIC nucleic acid #: 1201C>G
chr17:41246466:- chr17:43094449:-
Exon 11 Deletion c.1086_1087delGA 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 1205_1206delGA
chr17:41246461-41246462 (-) chr17:43094444-43094445 (-)
Exon 11 Deletion c.1088delA 5 - Definitely pathogenic >0.99 Montagna (1996) Cancer Res 56; 5466
BIC nucleic acid #: 1207delA
chr17:41246460 (-) chr17:43094443 (-)
Exon 11 Deletion c.1091delC 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 1210delC
chr17:41246457 (-) chr17:43094440 (-)
Exon 11 Deletion c.1082_1092del11 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 1201_1211del11
chr17:41246456-41246466 (-) chr17:43094439-43094449 (-)
Exon 11 Insertion c.1099dupA 5 - Definitely pathogenic >0.99 Alharbi (2005) Genome Res 15; 967
BIC nucleic acid #: 1218dupA
chr17:41246448-41246449 (-) chr17:43094431-43094432 (-)
Exon 11 Deletion c.1100delC 5 - Definitely pathogenic >0.99 Lerner-Ellis (2020) JCRCO,
BIC nucleic acid #: 1219delC
chr17:41246448 (-) chr17:43094431 (-)
Exon 11 Insertion c.1100dupC 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 1219dupC
chr17:41246447-41246448 (-) chr17:43094430-43094431 (-)
Exon 11 Nonsense c.1102G>T p.E368* 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 1221G>T
chr17:41246446:- chr17:43094429:-
Exon 11 Missense c.1105G>A p.D369N 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1224G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00017
  • Co-occurrence: 1.66
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00028
chr17:41246443:- chr17:43094426:-
Exon 11 Deletion c.1112delC 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 1231delC
chr17:41246436 (-) chr17:43094419 (-)
Exon 11 Nonsense c.1115G>A p.W372* 5 - Definitely pathogenic >0.99 Zhou (2004) Zhonghua Yi Xue Za Zhi 84; 294
BIC nucleic acid #: 1234G>A
chr17:41246433:- chr17:43094416:-
Exon 11 Nonsense c.1116G>A p.W372* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 1235G>A
chr17:41246432:- chr17:43094415:-
Exon 11 Insertion c.1119_1120ins4 5 - Definitely pathogenic >0.99 Akcay (2020) IJC epub, epub
BIC nucleic acid #: 1238_1239ins4
chr17:41246428-41246429 (-) chr17:43094411-43094412 (-)
Exon 11 Deletion c.1120delA 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 1239delA
chr17:41246428 (-) chr17:43094411 (-)
Exon 11 Deletion c.1121delC 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 1240delC
chr17:41246427 (-) chr17:43094410 (-)
Exon 11 Indel c.1121_1123delCACinsT 5 - Definitely pathogenic >0.99 Diez (2003) Hum Mutat 22; 301
BIC nucleic acid #: 1240_1242delCACinsT
chr17:41246425-41246427 (-) chr17:43094408-43094410 (-)
Exon 11 Deletion c.1122_1123delAC 5 - Definitely pathogenic >0.99 Diez (1999) Int J Cancer 83; 465
BIC nucleic acid #: 1241_1242delAC
chr17:41246425-41246426 (-) chr17:43094408-43094409 (-)
Exon 11 Indel c.1123_1124delCTinsA 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 1242_1243delCTinsA
chr17:41246424-41246425 (-) chr17:43094407-43094408 (-)
Exon 11 Deletion c.1127delA 5 - Definitely pathogenic >0.99 Arnold (1999) Hum Mutat 14; 333
BIC nucleic acid #: 1246delA
chr17:41246421 (-) chr17:43094404 (-)
Exon 11 Insertion c.1126_1127dupAA 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 1245_1246dupAA
chr17:41246420-41246421 (-) chr17:43094403-43094404 (-)
Exon 11 Deletion c.1135delA 5 - Definitely pathogenic >0.99 Teixeira (2018) EJHG 26, 848
BIC nucleic acid #: 1254delA
chr17:41246413 (-) chr17:43094396 (-)
Exon 11 Nonsense c.1138C>T p.Q380* 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 1257C>T
chr17:41246410:- chr17:43094393:-
Exon 11 Insertion c.1140dupG 5 - Definitely pathogenic >0.99 Bu (2016) IJC epub, epub
BIC nucleic acid #: 1259dupG
chr17:41246407-41246408 (-) chr17:43094390-43094391 (-)
Exon 11 Nonsense c.1141A>T p.K381* 5 - Definitely pathogenic >0.99 Garcia-Patino (1998) Acta Oncol 37; 299
BIC nucleic acid #: 1260A>T
chr17:41246407:- chr17:43094390:-
Exon 11 Insertion c.1152dupG 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 1271dupG
chr17:41246395-41246396 (-) chr17:43094378-43094379 (-)
Exon 11 Nonsense c.1154G>A p.W385* 5 - Definitely pathogenic >0.99 Apessos (2018) CG 220, 1
BIC nucleic acid #: 1273G>A
chr17:41246394:- chr17:43094377:-
Exon 11 Nonsense c.1155G>A p.W385* 5 - Definitely pathogenic >0.99 Francies (2015) BMC C 15, 912
BIC nucleic acid #: 1274G>A
chr17:41246393:- chr17:43094376:-
Exon 11 Deletion c.1158_1159delTT 5 - Definitely pathogenic >0.99 Sauvan (2000) Hum Mutat 17; 154
BIC nucleic acid #: 1277_1278delTT
chr17:41246389-41246390 (-) chr17:43094372-43094373 (-)
Exon 11 Missense c.1159T>A p.S387A 1 - Not pathogenic or of no clinical significance 6.12E-06 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1278T>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.0003
  • Pathology:
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.0003
chr17:41246389:- chr17:43094372:-
Exon 11 Insertion c.1159dupT 5 - Definitely pathogenic >0.99 Yamashita (1999) Breast Cancer Res Treat 58; 11
BIC nucleic acid #: 1278dupT
chr17:41246388-41246389 (-) chr17:43094371-43094372 (-)
Exon 11 Deletion c.1166delG 5 - Definitely pathogenic >0.99 Konecny (2007) Neoplasma 54; 137
BIC nucleic acid #: 1285delG
chr17:41246382 (-) chr17:43094365 (-)
Exon 11 Deletion c.1157_1170del14 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1276_1289del14
chr17:41246378-41246391 (-) chr17:43094361-43094374 (-)
Exon 11 Deletion c.1175_1178del4 5 - Definitely pathogenic >0.99 Martin (2001) J Clin Oncol 19; 2247
BIC nucleic acid #: 1294_1297del4
chr17:41246370-41246373 (-) chr17:43094353-43094356 (-)
Exon 11 Insertion c.1179_1180dupAG 5 - Definitely pathogenic >0.99 Kwon (2019) CRTRT 51, 941
BIC nucleic acid #: 1298_1299dupAG
chr17:41246367-41246368 (-) chr17:43094350-43094351 (-)
Exon 11 Deletion c.1188delT 5 - Definitely pathogenic >0.99 Gajalakshmi (2007) Breast Cancer Res Treat 101; 3
BIC nucleic acid #: 1307delT
chr17:41246360 (-) chr17:43094343 (-)
Exon 11 Deletion c.1190delA 5 - Definitely pathogenic >0.99 Rashid (2016) BMC C 16,
BIC nucleic acid #: 1309delA
chr17:41246358 (-) chr17:43094341 (-)
Exon 11 Missense c.1192T>C p.S398P 3 - Uncertain 0.040132281 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1311T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 1.983076777
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 2.048700828
chr17:41246356:- chr17:43094339:-
Exon 11 Nonsense c.1193C>A p.S398* 5 - Definitely pathogenic >0.99 Novakovic (2012) Int J Oncol epub; epub
BIC nucleic acid #: 1312C>A
chr17:41246355:- chr17:43094338:-
Exon 11 Nonsense c.1193C>G p.S398* 5 - Definitely pathogenic >0.99 Bhaskaran (2019) IJC,
BIC nucleic acid #: 1312C>G
chr17:41246355:- chr17:43094338:-
Exon 11 Nonsense c.1204G>T p.E402* 5 - Definitely pathogenic >0.99 Thirthagiri (2008) Breast Cancer Res 10; R59
BIC nucleic acid #: 1323G>T
chr17:41246344:- chr17:43094327:-
Exon 11 Deletion c.1204delG 5 - Definitely pathogenic >0.99 Struewing (1995) Am J Hum Genet 57; 1
BIC nucleic acid #: 1323delG
chr17:41246344 (-) chr17:43094327 (-)
Exon 11 Deletion c.1209delT 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 1328delT
chr17:41246339 (-) chr17:43094322 (-)
Exon 11 Insertion c.1208_1209dupCT 5 - Definitely pathogenic >0.99 Stavropoulou (2013) PLoS One 8; e58182
BIC nucleic acid #: 1327_1328dupCT
chr17:41246338-41246339 (-) chr17:43094321-43094322 (-)
Exon 11 Insertion c.1209dupT 5 - Definitely pathogenic >0.99 Teixeira (2018) EJHG 26, 848
BIC nucleic acid #: 1328dupT
chr17:41246338-41246339 (-) chr17:43094321-43094322 (-)
Exon 11 Nonsense c.1214C>G p.S405* 5 - Definitely pathogenic >0.99 Yang (2015) PLOS ONE 10, e0125571
BIC nucleic acid #: 1333C>G
chr17:41246334:- chr17:43094317:-
Exon 11 Deletion c.1217delA 5 - Definitely pathogenic >0.99 Garcia-Patino (1998) J Clin Oncol 16; 115
BIC nucleic acid #: 1336delA
chr17:41246331 (-) chr17:43094314 (-)
Exon 11 Insertion c.1217dupA 5 - Definitely pathogenic >0.99 Santonocito (2017) BREAST 36, 74
BIC nucleic acid #: 1336dupA
chr17:41246330-41246331 (-) chr17:43094313-43094314 (-)
Exon 11 Insertion c.1218dupT 5 - Definitely pathogenic >0.99 Santonocito (2017) BREAST 36, 74
BIC nucleic acid #: 1337dupT
chr17:41246329-41246330 (-) chr17:43094312-43094313 (-)
Exon 11 Insertion c.1222_1223insT 5 - Definitely pathogenic >0.99 Santonocito (2017) BREAST 36, 74
BIC nucleic acid #: 1341_1342insT
chr17:41246325-41246326 (-) chr17:43094308-43094309 (-)
Exon 11 Deletion c.1224delA 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 1343delA
chr17:41246324 (-) chr17:43094307 (-)
Exon 11 Deletion c.1232_1233delAT 5 - Definitely pathogenic >0.99 Schrader (2012) Obstet Gynecol 120; 235
BIC nucleic acid #: 1351_1352delAT
chr17:41246315-41246316 (-) chr17:43094298-43094299 (-)
Exon 11 Insertion c.1241dupA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 1360dupA
chr17:41246306-41246307 (-) chr17:43094289-43094290 (-)
Exon 11 Missense c.1243G>A p.V415I 2 - Likely not pathogenic or of little clinical significance 0.007968644 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1362G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.984
  • Pathology: 0.4
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.3936
chr17:41246305:- chr17:43094288:-
Exon 11 Nonsense c.1252G>T p.E418* 5 - Definitely pathogenic >0.99 Levanat (2012) Gene 498; 169
BIC nucleic acid #: 1371G>T
chr17:41246296:- chr17:43094279:-
Exon 11 Insertion c.1252dupG 5 - Definitely pathogenic >0.99 Meisel (2017) ARCH GOB,
BIC nucleic acid #: 1371dupG
chr17:41246295-41246296 (-) chr17:43094278-43094279 (-)
Exon 11 Deletion c.1255delG 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 1374delG
chr17:41246293 (-) chr17:43094276 (-)
Exon 11 Deletion c.1257delA 5 - Definitely pathogenic >0.99 Teixeira (2018) EJHG 26, 848
BIC nucleic acid #: 1376delA
chr17:41246291 (-) chr17:43094274 (-)
Exon 11 Missense c.1258G>T p.D420Y 2 - Likely not pathogenic or of little clinical significance 0.004873627 Parsons et al., Hum Mutat, 40:1557-1578, 2019 Vallee MP et al., Hum Mutat, 37: 627-639, 2016
Easton DF et al., Am J Hum Genet, 81: 873-883, 2007
BIC nucleic acid #: 1377G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.64
Observational data
  • Segregation:
  • Pathology: 0.34
  • Sum Family: 0.006885295
  • Co-occurrence: 1.176779436
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.002754841
chr17:41246290:- chr17:43094273:-
Exon 11 Insertion c.1265dupA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 1384dupA
chr17:41246282-41246283 (-) chr17:43094265-43094266 (-)
Exon 11 Nonsense c.1266T>G p.Y422* 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 1385T>G
chr17:41246282:- chr17:43094265:-
Exon 11 Insertion c.1265_1266dupAT 5 - Definitely pathogenic >0.99 Ahmad (2012) Clin Genet 82; 594
BIC nucleic acid #: 1384_1385dupAT
chr17:41246281-41246282 (-) chr17:43094264-43094265 (-)
Exon 11 Deletion c.1277delC 5 - Definitely pathogenic >0.99 Carter (2018) GYN ONC 151, 481
BIC nucleic acid #: 1396delC
chr17:41246271 (-) chr17:43094254 (-)
Exon 11 Nonsense c.1279G>T p.E427* 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 1398G>T
chr17:41246269:- chr17:43094252:-
Exon 11 Deletion c.1287delA 5 - Definitely pathogenic >0.99 Heramb (2018) HCCP 16, 3
BIC nucleic acid #: 1406delA
chr17:41246261 (-) chr17:43094244 (-)
Exon 11 Insertion c.1287dupA 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 1406dupA
chr17:41246260-41246261 (-) chr17:43094243-43094244 (-)
Exon 11 Deletion c.1277_1292del16 5 - Definitely pathogenic >0.99 Momozawa (2018) NAT COMM 9,
BIC nucleic acid #: 1396_1411del16
chr17:41246256-41246271 (-) chr17:43094239-43094254 (-)
Exon 11 Nonsense c.1292T>G p.L431* 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 1411T>G
chr17:41246256:- chr17:43094239:-
Exon 11 Deletion c.1292delT 5 - Definitely pathogenic >0.99 Michils (2012) J Mol Diagn 14; 623
BIC nucleic acid #: 1411delT
chr17:41246256 (-) chr17:43094239 (-)
Exon 11 Insertion c.1292dupT 5 - Definitely pathogenic >0.99 Hogervorst (1995) Nat Genet 10; 208
BIC nucleic acid #: 1411dupT
chr17:41246255-41246256 (-) chr17:43094238-43094239 (-)
Exon 11 Insertion c.1293dupA 5 - Definitely pathogenic >0.99 Hata (2020) JHG 65, 577
BIC nucleic acid #: 1412dupA
chr17:41246254-41246255 (-) chr17:43094237-43094238 (-)
Exon 11 Indel c.1293_1295delACTinsGA 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 1412_1414delACTinsGA
chr17:41246253-41246255 (-) chr17:43094236-43094238 (-)
Exon 11 Deletion c.1297delG 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol epub; epub
BIC nucleic acid #: 1416delG
chr17:41246251 (-) chr17:43094234 (-)
Exon 11 Insertion c.1299dupC 5 - Definitely pathogenic >0.99 Zhong (2016) PLOS ONE 11, e0156789
BIC nucleic acid #: 1418dupC
chr17:41246248-41246249 (-) chr17:43094231-43094232 (-)
Exon 11 Insertion c.1299_1302dup4 5 - Definitely pathogenic >0.99 Couch (2015) JCO 33, 304
BIC nucleic acid #: 1418_1421dup4
chr17:41246245-41246246 (-) chr17:43094228-43094229 (-)
Exon 11 Deletion c.1303_1309del7 5 - Definitely pathogenic >0.99 Barnes-Kedar (2018) BCRT 172, 151
BIC nucleic acid #: 1422_1428del7
chr17:41246239-41246245 (-) chr17:43094222-43094228 (-)
Exon 11 Missense c.1310A>T p.H437L 2 - Likely not pathogenic or of little clinical significance 0.004739851 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1429A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.225883846
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.233358803
chr17:41246238:- chr17:43094221:-
Exon 11 Deletion c.1319delT 5 - Definitely pathogenic >0.99 Hogervorst (1995) Nat Genet 10; 208
BIC nucleic acid #: 1438delT
chr17:41246229 (-) chr17:43094212 (-)
Exon 11 Insertion c.1319dupT 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 1438dupT
chr17:41246228-41246229 (-) chr17:43094211-43094212 (-)
Exon 11 Nonsense c.1326T>A p.C442* 5 - Definitely pathogenic >0.99 Kadouri (2004) Int J Cancer 108; 399
BIC nucleic acid #: 1445T>A
chr17:41246222:- chr17:43094205:-
Exon 11 Insertion c.1326_1327insG 5 - Definitely pathogenic >0.99 Abulkhair (2018) JG ONCOL 4, 1
BIC nucleic acid #: 1445_1446insG
chr17:41246221-41246222 (-) chr17:43094204-43094205 (-)
Exon 11 Nonsense c.1327A>T p.K443* 5 - Definitely pathogenic >0.99 Silva (2014) BMC MG 15,
BIC nucleic acid #: 1446A>T
chr17:41246221:- chr17:43094204:-
Exon 11 Nonsense c.1333G>T p.E445* 5 - Definitely pathogenic >0.99 Diez (2003) Hum Mutat 22:301–312
BIC nucleic acid #: 1452G>T
chr17:41246215:- chr17:43094198:-
Exon 11 Deletion c.1335_1336delAA 5 - Definitely pathogenic >0.99 Kadouri (2004) Int J Cancer 108; 399
BIC nucleic acid #: 1454_1455delAA
chr17:41246212-41246213 (-) chr17:43094195-43094196 (-)
Exon 11 Deletion c.1336delA 5 - Definitely pathogenic >0.99 Sepahi (2019) BMC C 19, 787
BIC nucleic acid #: 1455delA
chr17:41246212 (-) chr17:43094195 (-)
Exon 11 Deletion c.1338_1339delAG 5 - Definitely pathogenic >0.99 Hata (2020) JHG 65, 577
BIC nucleic acid #: 1457_1458delAG
chr17:41246209-41246210 (-) chr17:43094192-43094193 (-)
Exon 11 Insertion c.1339dupG 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 1458dupG
chr17:41246208-41246209 (-) chr17:43094191-43094192 (-)
exon 11 Deletion c.1340_1341delTT 5 - Definitely pathogenic >0.99 Wang (2015) ANN ONCO 26, 523
BIC nucleic acid #: 1459_1460delTT
chr17:41246207-41246208 (-) chr17:43094190-43094191 (-)
Exon 11 Insertion c.1340_1341insG 5 - Definitely pathogenic >0.99 Meisel (2017) ARCH GOB,
BIC nucleic acid #: 1459_1460insG
chr17:41246207-41246208 (-) chr17:43094190-43094191 (-)
Exon 11 Missense c.1342C>T p.H448Y 2 - Likely not pathogenic or of little clinical significance 0.005866173 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1461C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.279876907
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.289138604
chr17:41246206:- chr17:43094189:-
Exon 11 Nonsense c.1352C>A p.S451* 5 - Definitely pathogenic >0.99 Reeves (2004) Int J Cancer 110; 677
BIC nucleic acid #: 1471C>A
chr17:41246196:- chr17:43094179:-
Exon 11 Nonsense c.1352C>G p.S451* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 1471C>G
chr17:41246196:- chr17:43094179:-
Exon 11 Deletion c.1354delG 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 1473delG
chr17:41246194 (-) chr17:43094177 (-)
Exon 11 Deletion c.1357delG 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 1476delG
chr17:41246191 (-) chr17:43094174 (-)
Exon 11 Deletion c.1360_1361delAG 5 - Definitely pathogenic >0.99 van Orsouw (1999) J Med Genet 36; 747
BIC nucleic acid #: 1479_1480delAG
chr17:41246187-41246188 (-) chr17:43094170-43094171 (-)
Exon 11 Missense c.1361G>A p.S454N 2 - Likely not pathogenic or of little clinical significance 0.010070867 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1480G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.482525023
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.498492759
chr17:41246187:- chr17:43094170:-
Exon 11 Deletion c.1361delG 5 - Definitely pathogenic >0.99 Lin (2016) Oncotarget : [Additional report]
BIC nucleic acid #: 1480delG
chr17:41246187 (-) chr17:43094170 (-)
Exon 11 Deletion c.1352_1364del13 5 - Definitely pathogenic >0.99 Shi (2017) IJC 140, 2051
BIC nucleic acid #: 1471_1483del13
chr17:41246184-41246196 (-) chr17:43094167-43094179 (-)
Exon 11 Insertion c.1363_1364insGA 5 - Definitely pathogenic >0.99 Essioux (1998) Am J Med Genet 79; 175
BIC nucleic acid #: 1482_1483insGA
chr17:41246184-41246185 (-) chr17:43094167-43094168 (-)
Exon 11 Nonsense c.1369G>T p.E457* 5 - Definitely pathogenic >0.99 Krivokuca (2019) JHG 64, 281
BIC nucleic acid #: 1488G>T
chr17:41246179:- chr17:43094162:-
Exon 11 Deletion c.1371delA 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 1490delA
chr17:41246177 (-) chr17:43094160 (-)
Exon 11 Deletion c.1374delC 5 - Definitely pathogenic >0.99 Reeves (2004) Int J Cancer 110; 677
BIC nucleic acid #: 1493delC
chr17:41246174 (-) chr17:43094157 (-)
Exon 11 Nonsense c.1375A>T p.K459* 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 1494A>T
chr17:41246173:- chr17:43094156:-
Exon 11 Insertion c.1378dupA 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 1497dupA
chr17:41246169-41246170 (-) chr17:43094152-43094153 (-)
Exon 11 Insertion c.1380dupA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 1499dupA
chr17:41246167-41246168 (-) chr17:43094150-43094151 (-)
Exon 11 Missense c.1383T>A p.F461L 1 - Not pathogenic or of no clinical significance 0.000244369 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1502T>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.0048
  • Pathology:
  • Sum Family: 1.986709037
  • Co-occurrence: 1.255952165
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.011977016
chr17:41246165:- chr17:43094148:-
Exon 11 Deletion c.1386delG 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 1505delG
chr17:41246162 (-) chr17:43094145 (-)
Exon 11 Insertion c.1386dupG 5 - Definitely pathogenic >0.99 King (2001) JAMA 286; 2251
BIC nucleic acid #: 1505dupG
chr17:41246161-41246162 (-) chr17:43094144-43094145 (-)
Exon 11 Indel c.1387_1390del4ins5 5 - Definitely pathogenic >0.99 Liede (2002) Hum Mutat 19; 460
BIC nucleic acid #: 1506_1509del4ins5
chr17:41246158-41246161 (-) chr17:43094141-43094144 (-)
Exon 11 Deletion c.1390delA 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 1509delA
chr17:41246158 (-) chr17:43094141 (-)
Exon 11 Insertion c.1390dupA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1509dupA
chr17:41246157-41246158 (-) chr17:43094140-43094141 (-)
Exon 11 Insertion c.1390_1391insG 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 1509_1510insG
chr17:41246157-41246158 (-) chr17:43094140-43094141 (-)
Exon 11 Deletion c.1392delC 5 - Definitely pathogenic >0.99 Sng (2000) Br J Cancer 82; 538
BIC nucleic acid #: 1511delC
chr17:41246156 (-) chr17:43094139 (-)
Exon 11 Insertion c.1384_1393dup10 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 1503_1512dup10
chr17:41246154-41246155 (-) chr17:43094137-43094138 (-)
Exon 11 Missense c.1396C>T p.R466W 2 - Likely not pathogenic or of little clinical significance 0.001844254 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1515C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.074470536
  • Co-occurrence: 1.215721465
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.09053543
chr17:41246152:- chr17:43094135:-
Exon 11 Nonsense c.1399A>T p.K467* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 1518A>T
chr17:41246149:- chr17:43094132:-
Exon 11 Deletion c.1403delA 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 1522delA
chr17:41246145 (-) chr17:43094128 (-)
Exon 11 Deletion c.1405delG 5 - Definitely pathogenic >0.99 Garcia-Patino (1998) J Clin Oncol 16; 115
BIC nucleic acid #: 1524delG
chr17:41246143 (-) chr17:43094126 (-)
Exon 11 Deletion c.1402_1409del8 5 - Definitely pathogenic >0.99 Bu (2019) JOGR, 45, 2267
BIC nucleic acid #: 1521_1528del8
chr17:41246139-41246146 (-) chr17:43094122-43094129 (-)
Exon 11 Insertion c.1408dupA 5 - Definitely pathogenic >0.99 Teixeira (2018) EJHG 26, 848
BIC nucleic acid #: 1527dupA
chr17:41246139-41246140 (-) chr17:43094122-43094123 (-)
Exon 11 Deletion c.1416delC 5 - Definitely pathogenic >0.99 Mannan (2016) JHG 61, 515
BIC nucleic acid #: 1535delC
chr17:41246132 (-) chr17:43094115 (-)
Exon 11 Missense c.1418A>G p.N473S 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1537A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.0513
  • Co-occurrence: 0.00324
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00017
chr17:41246130:- chr17:43094113:-
Exon 11 Missense c.1418A>T p.N473I 1 - Not pathogenic or of no clinical significance 0.000525246 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1537A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.34
  • Sum Family: 0.066489318
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.02575057
chr17:41246130:- chr17:43094113:-
Exon 11 Nonsense c.1421T>G p.L474* 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 1540T>G
chr17:41246127:- chr17:43094110:-
Exon 11 Missense c.1423A>T p.S475C 2 - Likely not pathogenic or of little clinical significance 0.006581861 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1542A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.1944
  • Pathology: 1.67
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.324648
chr17:41246125:- chr17:43094108:-
Exon 11 Deletion c.1426delC 5 - Definitely pathogenic >0.99 Manchana (2019) WJCO 10, 358
BIC nucleic acid #: 1545delC
chr17:41246122 (-) chr17:43094105 (-)
Exon 11 Deletion c.1434_1435delTG 5 - Definitely pathogenic >0.99 Heramb (2018) HCCP 16,
BIC nucleic acid #: 1553_1554delTG
chr17:41246113-41246114 (-) chr17:43094096-43094097 (-)
Exon 11 Deletion c.1428_1437del10 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 1547_1556del10
chr17:41246111-41246120 (-) chr17:43094094-43094103 (-)
Exon 11 Insertion c.1439dupA 5 - Definitely pathogenic >0.99 van Orsouw (1999) J Med Genet 36; 747
BIC nucleic acid #: 1558dupA
chr17:41246108-41246109 (-) chr17:43094091-43094092 (-)
Exon 11 Insertion c.1442dupT 5 - Definitely pathogenic >0.99 Dong (2018) HUM MUT 39, 1442
BIC nucleic acid #: 1561dupT
chr17:41246105-41246106 (-) chr17:43094088-43094089 (-)
Exon 11 Deletion c.1444delA 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 1563delA
chr17:41246104 (-) chr17:43094087 (-)
Exon 11 Deletion c.1444_1447del4 5 - Definitely pathogenic >0.99 Emi (1998) Jpn J Cancer Res 89; 12
BIC nucleic acid #: 1563_1566del4
chr17:41246101-41246104 (-) chr17:43094084-43094087 (-)
Exon 11 Nonsense c.1450G>T p.G484* 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 1569G>T
chr17:41246098:- chr17:43094081:-
Exon 11 Missense c.1456T>C p.F486L 1 - Not pathogenic or of no clinical significance 0 Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1575T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.0007
  • Pathology: 0.143
  • Sum Family:
  • Co-occurrence: 9.12E-07
  • Functional assay:
  • Case Control:
  • Products of LRs: 9.13E-11
chr17:41246092:- chr17:43094075:-
Exon 11 Insertion c.1462dupA 5 - Definitely pathogenic >0.99 Nicolussi (2019) PEERJ 7, e6661
BIC nucleic acid #: 1581dupA
chr17:41246085-41246086 (-) chr17:43094068-43094069 (-)
Exon 11 Nonsense c.1465G>T p.E489* 5 - Definitely pathogenic >0.99 Zhi (2002) Hum Mutat 20; 474
BIC nucleic acid #: 1584G>T
chr17:41246083:- chr17:43094066:-
Exon 11 Nonsense c.1471C>T p.Q491* 5 - Definitely pathogenic >0.99 Rashid (2006) Int J Cancer 119; 2832
BIC nucleic acid #: 1590C>T
chr17:41246077:- chr17:43094060:-
Exon 11 Nonsense c.1480C>T p.Q494* 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 1599C>T
chr17:41246068:- chr17:43094051:-
Exon 11 Missense c.1486C>T p.R496C 1 - Not pathogenic or of no clinical significance 0.00089 Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1605C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1.95
  • Pathology:
  • Sum Family:
  • Co-occurrence: 0.0224
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.04368
chr17:41246062:- chr17:43094045:-
Exon 11 Missense c.1487G>A p.R496H 1 - Not pathogenic or of no clinical significance 0 Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1606G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 9.20E-05
  • Functional assay:
  • Case Control:
  • Products of LRs: 9.20E-05
chr17:41246061:- chr17:43094044:-
Exon 11 Deletion c.1488delT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 1607delT
chr17:41246060 (-) chr17:43094043 (-)
Exon 11 Deletion c.1492delC 5 - Definitely pathogenic >0.99 Garvin (1996) J Med Genet 33; 721
BIC nucleic acid #: 1611delC
chr17:41246056 (-) chr17:43094039 (-)
Exon 11 Insertion c.1492dupC 5 - Definitely pathogenic >0.99 Hasmad (2015) GYN ONC epub, epub
BIC nucleic acid #: 1611dupC
chr17:41246055-41246056 (-) chr17:43094038-43094039 (-)
Exon 11 Deletion c.1493_1494delTC 5 - Definitely pathogenic >0.99 Park (2017) BCRT,
BIC nucleic acid #: 1612_1613delTC
chr17:41246054-41246055 (-) chr17:43094037-43094038 (-)
Exon 11 Deletion c.1483_1498del16 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 1602_1617del16
chr17:41246050-41246065 (-) chr17:43094033-43094048 (-)
Exon 11 Deletion c.1499delA 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol epub; epub
BIC nucleic acid #: 1618delA
chr17:41246049 (-) chr17:43094032 (-)
Exon 11 Deletion c.1501_1504del4 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 1620_1623del4
chr17:41246044-41246047 (-) chr17:43094027-43094030 (-)
Exon 11 Nonsense c.1505T>G p.L502* 5 - Definitely pathogenic >0.99 Stavropoulou (2013) PLoS One 8; e58182
BIC nucleic acid #: 1624T>G
chr17:41246043:- chr17:43094026:-
Exon 11 Deletion c.1505delT 5 - Definitely pathogenic >0.99 Larsen (2013) PLOS ONE 8, e64268
BIC nucleic acid #: 1624delT
chr17:41246043 (-) chr17:43094026 (-)
Exon 11 Deletion c.1504_1507del4 5 - Definitely pathogenic >0.99 Solano (2012) SpringerPlus 1;
BIC nucleic acid #: 1623_1626del4
chr17:41246041-41246044 (-) chr17:43094024-43094027 (-)
Exon 11 Nonsense c.1507A>T p.K503* 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 1626A>T
chr17:41246041:- chr17:43094024:-
Exon 11 Deletion c.1504_1508del5 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 1623_1627del5
chr17:41246040-41246044 (-) chr17:43094023-43094027 (-)
Exon 11 Missense c.1508A>G p.K503R 2 - Likely not pathogenic or of little clinical significance 0.010082793 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1627A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.452648414
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.499089055
chr17:41246040:- chr17:43094023:-
Exon 11 Insertion c.1499_1508dup10 5 - Definitely pathogenic >0.99 Yang (2011) JAMA 306; 1557
BIC nucleic acid #: 1618_1627dup10
chr17:41246039-41246040 (-) chr17:43094022-43094023 (-)
Exon 11 Deletion c.1506_1510del5 5 - Definitely pathogenic >0.99 Gao (2000) Hum Genet 107; 186
BIC nucleic acid #: 1625_1629del5
chr17:41246038-41246042 (-) chr17:43094021-43094025 (-)
Exon 11 Deletion c.1510delC 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 1629delC
chr17:41246038 (-) chr17:43094021 (-)
Exon 11 Missense c.1511G>A p.R504H 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1630G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.0218
  • Pathology:
  • Sum Family: 0.00065
  • Co-occurrence: 3.72
  • Functional assay:
  • Case Control:
  • Products of LRs: 5.27E-05
chr17:41246037:- chr17:43094020:-
Exon 11 Insertion c.1511dupG p. K505* 5 - Definitely pathogenic >0.99 Son (2012) Breast Cancer Res Treat 133; 1143
BIC nucleic acid #: 1630dupG
chr17:41246036-41246037 (-) chr17:43094019-43094020 (-)
Exon 11 Nonsense c.1513A>T p.K505* 5 - Definitely pathogenic >0.99 Palmieri (2002) Ann Oncol 13; 1899
BIC nucleic acid #: 1632A>T
chr17:41246035:- chr17:43094018:-
Exon 11 Insertion c.1513_1514insT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 1632_1633insT
chr17:41246034-41246035 (-) chr17:43094017-43094018 (-)
Exon 11 Missense c.1514A>T p.K505I 2 - Likely not pathogenic or of little clinical significance 0.001373241 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1633A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.065222985
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.067381347
chr17:41246034:- chr17:43094017:-
Exon 11 Deletion c.1516delA 5 - Definitely pathogenic >0.99 Park (2017) BCRT,
BIC nucleic acid #: 1635delA
chr17:41246032 (-) chr17:43094015 (-)
Exon 11 Deletion c.1504_1518del15 5 - Definitely pathogenic >0.99 Smith (2001) Gynecol Oncol 83; 586
BIC nucleic acid #: 1623_1637del15
chr17:41246030-41246044 (-) chr17:43094013-43094027 (-)
Exon 11 Deletion c.1518delG 5 - Definitely pathogenic >0.99 Momozawa (2018) NAT COMM 9,
BIC nucleic acid #: 1637delG
chr17:41246030 (-) chr17:43094013 (-)
Exon 11 Nonsense c.1519A>T p.R507* 5 - Definitely pathogenic >0.99 Palomba (2009) BMC Cancer 9; 245
BIC nucleic acid #: 1638A>T
chr17:41246029:- chr17:43094012:-
Exon 11 Deletion c.1517_1521del5 5 - Definitely pathogenic >0.99 Choi (2004) J Clin Oncol 22; 1638
BIC nucleic acid #: 1636_1640del5
chr17:41246027-41246031 (-) chr17:43094010-43094014 (-)
Exon 11 Deletion c.1523delC 5 - Definitely pathogenic >0.99 Cecener (2014) CANCER INV 32, 375
BIC nucleic acid #: 1642delC
chr17:41246025 (-) chr17:43094008 (-)
Exon 11 Nonsense c.1529C>A p.S510* 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 1648C>A
chr17:41246019:- chr17:43094002:-
Exon 11 Nonsense c.1529C>G p.S510* 5 - Definitely pathogenic >0.99 Garvin (1996) J Med Genet 33; 721
BIC nucleic acid #: 1648C>G
chr17:41246019:- chr17:43094002:-
Exon 11 Deletion c.1530delA 5 - Definitely pathogenic >0.99 S/NI Consortium (2003) Br J Cancer 88; 1256
BIC nucleic acid #: 1649delA
chr17:41246018 (-) chr17:43094001 (-)
Exon 11 Deletion c.1532delG 5 - Definitely pathogenic >0.99 Fanale (2020) CANCERS 12, 2415
BIC nucleic acid #: 1651delG
chr17:41246016 (-) chr17:43093999 (-)
Exon 11 Missense c.1534C>T p.L512F 1 - Not pathogenic or of no clinical significance 0.000142962 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1653C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.999899983
  • Pathology: 0.12
  • Sum Family: 0.033572095
  • Co-occurrence: 1.739254919
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.007006151
chr17:41246014:- chr17:43093997:-
Exon 11 Missense c.1534C>G p.L512V 2 - Likely not pathogenic or of little clinical significance 0.008044958 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1653C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.3974
  • Pathology:
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.3974
chr17:41246014:- chr17:43093997:-
Exon 11 Deletion c.1534delC 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 1653delC
chr17:41246014 (-) chr17:43093997 (-)
Exon 11 Deletion c.1551delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1670delT
chr17:41245997 (-) chr17:43093980 (-)
Exon 11 Deletion c.1556delA 5 - Definitely pathogenic >0.99 Johannsson (1996) Am J Hum Genet 58; 441
BIC nucleic acid #: 1675delA
chr17:41245992 (-) chr17:43093975 (-)
Exon 11 Indel c.1561_1564del4ins4 p.A521* 5 - Definitely pathogenic >0.99 Hendrickson (2002) Clin Genet 61; 317
BIC nucleic acid #: 1680_1683del4ins4
chr17:41245984-41245987 (-) chr17:43093967-43093970 (-)
Exon 11 Insertion c.1565_1566insC 5 - Definitely pathogenic >0.99 Garcia-Patino (1998) Acta Oncol 37; 299
BIC nucleic acid #: 1684_1685insC
chr17:41245982-41245983 (-) chr17:43093965-43093966 (-)
Exon 11 Nonsense c.1568T>A p.L523* 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC,
BIC nucleic acid #: 1687T>A
chr17:41245980:- chr17:43093963:-
Exon 11 Deletion c.1568delT 5 - Definitely pathogenic >0.99 Yassaee (2016) APJCP 17SpNo, 149
BIC nucleic acid #: 1687delT
chr17:41245980 (-) chr17:43093963 (-)
Exon 11 Deletion c.1570delG 5 - Definitely pathogenic >0.99 Esteban Cardeñosa (2008) Breast Cancer Res Treat 112; 69
BIC nucleic acid #: 1689delG
chr17:41245978 (-) chr17:43093961 (-)
Exon 11 Deletion c.1575delT 5 - Definitely pathogenic >0.99 Sirisena (2020) BCR 22, 43
BIC nucleic acid #: 1694delT
chr17:41245973 (-) chr17:43093956 (-)
Exon 11 Nonsense c.1576C>T p.Q526* 5 - Definitely pathogenic >0.99 Friedman (1995) Am J Hum Genet 57; 1284
BIC nucleic acid #: 1695C>T
chr17:41245972:- chr17:43093955:-
Exon 11 Deletion c.1579_1580delAA 5 - Definitely pathogenic >0.99 Li (2018) IJC,
BIC nucleic acid #: 1698_1699delAA
chr17:41245968-41245969 (-) chr17:43093951-43093952 (-)
Exon 11 Deletion c.1583_1589del7 5 - Definitely pathogenic >0.99 Moslehi (1998) Am J Med Genet 78; 386
BIC nucleic acid #: 1702_1708del7
chr17:41245959-41245965 (-) chr17:43093942-43093948 (-)
Exon 11 Nonsense c.1600C>T p.Q534* 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 1719C>T
chr17:41245948:- chr17:43093931:-
Exon 11 Deletion c.1595_1601del7 5 - Definitely pathogenic >0.99 S/NI Consortium (2003) Br J Cancer 88; 1256
BIC nucleic acid #: 1714_1720del7
chr17:41245947-41245953 (-) chr17:43093930-43093936 (-)
Exon 11 Missense c.1601A>G p.Q534R 2 - Likely not pathogenic or of little clinical significance 0.005311302 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1720A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.237297322
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.261643458
chr17:41245947:- chr17:43093930:-
Exon 11 Deletion c.1601_1602delAG 5 - Definitely pathogenic >0.99 Couch (2015) JCO 33, 304
BIC nucleic acid #: 1720_1721delAG
chr17:41245946-41245947 (-) chr17:43093929-43093930 (-)
Exon 11 Insertion c.1601dupA 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 1720dupA
chr17:41245946-41245947 (-) chr17:43093929-43093930 (-)
Exon 11 Deletion c.1608_1611del4 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 1727_1730del4
chr17:41245937-41245940 (-) chr17:43093920-43093923 (-)
Exon 11 Nonsense c.1612C>T p.Q538* 5 - Definitely pathogenic >0.99 Eerola (2005) Breast Cancer Res 7; R93
BIC nucleic acid #: 1731C>T
chr17:41245936:- chr17:43093919:-
Exon 11 Insertion c.1615dupA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 1734dupA
chr17:41245932-41245933 (-) chr17:43093915-43093916 (-)
Exon 11 Missense c.1616C>T p.T539M 1 - Not pathogenic or of no clinical significance 0.000272547 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1735C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.05402426
  • Pathology: 0.3476
  • Sum Family: 0.450962699
  • Co-occurrence: 1.577415842
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.01335843
chr17:41245932:- chr17:43093915:-
Exon 11 Nonsense c.1618G>T p.E540* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1737G>T
chr17:41245930:- chr17:43093913:-
Exon 11 Nonsense c.1621C>T p.Q541* 5 - Definitely pathogenic >0.99 Dong (1998) Hum Genet 103; 154
BIC nucleic acid #: 1740C>T
chr17:41245927:- chr17:43093910:-
Exon 11 Insertion c.1623dupG 5 - Definitely pathogenic >0.99 Gao (2000) Hum Genet 107; 192
BIC nucleic acid #: 1742dupG
chr17:41245924-41245925 (-) chr17:43093907-43093908 (-)
Exon 11 Deletion c.1625delA 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 1744delA
chr17:41245923 (-) chr17:43093906 (-)
Exon 11 Nonsense c.1630C>T p.Q544* 5 - Definitely pathogenic >0.99 Litton (2012) Cancer 118; 321
BIC nucleic acid #: 1749C>T
chr17:41245918:- chr17:43093901:-
Exon 11 Deletion c.1630delC 5 - Definitely pathogenic >0.99 Brovkina (2018) FRONC 8, 421
BIC nucleic acid #: 1749delC
chr17:41245918 (-) chr17:43093901 (-)
Exon 11 Deletion c.1631_1632delAA 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 1750_1751delAA
chr17:41245916-41245917 (-) chr17:43093899-43093900 (-)
Exon 11 Insertion c.1634dupT 5 - Definitely pathogenic >0.99 Li (2018) IJC,
BIC nucleic acid #: 1753dupT
chr17:41245913-41245914 (-) chr17:43093896-43093897 (-)
Exon 11 Missense c.1642A>G p.I548V 3 - Uncertain 0.051954465 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1761A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 2.599266094
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 2.685281104
chr17:41245906:- chr17:43093889:-
Exon 11 Missense c.1648A>C p.N550H 1 - Not pathogenic or of no clinical significance 0 Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1767A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.0007
  • Pathology: 0.143
  • Sum Family:
  • Co-occurrence: 0.0000008
  • Functional assay:
  • Case Control:
  • Products of LRs: 8.01E-11
chr17:41245900:- chr17:43093883:-
Exon 11 Deletion c.1649delA 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 1768delA
chr17:41245899 (-) chr17:43093882 (-)
Exon 11 Deletion c.1636_1654del19 5 - Definitely pathogenic >0.99 Donenberg (2016) BCRT 159, 131
BIC nucleic acid #: 1755_1773del19
chr17:41245894-41245912 (-) chr17:43093877-43093895 (-)
Exon 11 Nonsense c.1660G>T p.E554* 5 - Definitely pathogenic >0.99 Zhang (2012) Breast Cancer Res Treat 132; 421
BIC nucleic acid #: 1779G>T
chr17:41245888:- chr17:43093871:-
Exon 11 Deletion c.1673_1674delAA 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 1792_1793delAA
chr17:41245874-41245875 (-) chr17:43093857-43093858 (-)
Exon 11 Deletion c.1674delA 5 - Definitely pathogenic >0.99 Couch (1997) N Engl J Med 336; 1409
BIC nucleic acid #: 1793delA
chr17:41245874 (-) chr17:43093857 (-)
Exon 11 Insertion c.1674dupA 5 - Definitely pathogenic >0.99 Heramb (2018) HCCP 16, 3
BIC nucleic acid #: 1793dupA
chr17:41245873-41245874 (-) chr17:43093856-43093857 (-)
Exon 11 Deletion c.1681delT 5 - Definitely pathogenic >0.99 Mehta (2018) CMRES 10, 6505
BIC nucleic acid #: 1800delT
chr17:41245867 (-) chr17:43093850 (-)
Exon 11 Deletion c.1682_1683delCT 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 1801_1802delCT
chr17:41245865-41245866 (-) chr17:43093848-43093849 (-)
Exon 11 Insertion c.1684dupA 5 - Definitely pathogenic >0.99 Yassaee (2016) APJCP 17SpNo, 149
BIC nucleic acid #: 1803dupA
chr17:41245863-41245864 (-) chr17:43093846-43093847 (-)
Exon 11 Nonsense c.1687C>T p.Q563* 5 - Definitely pathogenic >0.99 Wagner (1998) Int J Cancer 77; 354
BIC nucleic acid #: 1806C>T
chr17:41245861:- chr17:43093844:-
Exon 11 Deletion c.1689delG 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 1808delG
chr17:41245859 (-) chr17:43093842 (-)
Exon 11 Deletion c.1694delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1813delA
chr17:41245854 (-) chr17:43093837 (-)
Exon 11 Insertion c.1695dupG 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 1814dupG
chr17:41245852-41245853 (-) chr17:43093835-43093836 (-)
Exon 11 Deletion c.1700delA 5 - Definitely pathogenic >0.99 Yazici (2002) Hum Mutat 20; 28
BIC nucleic acid #: 1819delA
chr17:41245848 (-) chr17:43093831 (-)
Exon 11 Insertion c.1700dupA 5 - Definitely pathogenic >0.99 Loizidou (2017) CLIN GENET 91, 611
BIC nucleic acid #: 1819dupA
chr17:41245847-41245848 (-) chr17:43093830-43093831 (-)
Exon 11 Missense c.1703C>G p.P568R 2 - Likely not pathogenic or of little clinical significance 0.001752635 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1822C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.21
  • Sum Family: 0.383841549
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.086029878
chr17:41245845:- chr17:43093828:-
Exon 11 Missense c.1703C>T p.P568L 1 - Not pathogenic or of no clinical significance 8.19E-06 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1822C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.0395
  • Pathology: 0.01539
  • Sum Family: 0.418721101
  • Co-occurrence: 1.577415842
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00040152
chr17:41245845:- chr17:43093828:-
Exon 11 Nonsense c.1714G>T p.E572* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1833G>T
chr17:41245834:- chr17:43093817:-
Exon 11 Deletion c.1716delA 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 1835delA
chr17:41245832 (-) chr17:43093815 (-)
Exon 11 Deletion c.1713_1717del5 5 - Definitely pathogenic >0.99 Gao (1997) Am J Hum Genet 60; 1233
BIC nucleic acid #: 1832_1836del5
chr17:41245831-41245835 (-) chr17:43093814-43093818 (-)
Exon 11 Insertion c.1716dupA 5 - Definitely pathogenic >0.99 Ahn (2007) Cancer Lett 245; 90
BIC nucleic acid #: 1835dupA
chr17:41245831-41245832 (-) chr17:43093814-43093815 (-)
Exon 11 Insertion c.1728dupA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 1847dupA
chr17:41245819-41245820 (-) chr17:43093802-43093803 (-)
Exon 11 Nonsense c.1729G>T p.E577* 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 1848G>T
chr17:41245819:- chr17:43093802:-
Exon 11 Deletion c.1729_1730delGA 5 - Definitely pathogenic >0.99 Vaziri (2000) Hum Mutat 17; 74
BIC nucleic acid #: 1848_1849delGA
chr17:41245818-41245819 (-) chr17:43093801-43093802 (-)
Exon 11 Deletion c.1733_1734delCT 5 - Definitely pathogenic >0.99 Gonzalez-Rivera (2016) BCRT 156, 507
BIC nucleic acid #: 1852_1853delCT
chr17:41245814-41245815 (-) chr17:43093797-43093798 (-)
Exon 11 Nonsense c.1741A>T p.K581* 5 - Definitely pathogenic >0.99 Keshavarzi (2012) Fam Cancer 11; 57
BIC nucleic acid #: 1860A>T
chr17:41245807:- chr17:43093790:-
Exon 11 Nonsense c.1747A>T p.K583* 5 - Definitely pathogenic >0.99 Pohlreich (2005) Breast Cancer Res 7; R728
BIC nucleic acid #: 1866A>T
chr17:41245801:- chr17:43093784:-
Exon 11 Missense c.1756C>T p.P586S 2 - Likely not pathogenic or of little clinical significance 0.004739851 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1875C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.225883846
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.233358803
chr17:41245792:- chr17:43093775:-
Exon 11 Deletion c.1757delC 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 1876delC
chr17:41245791 (-) chr17:43093774 (-)
Exon 11 Deletion c.1758_1761del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1877_1880del4
chr17:41245787-41245790 (-) chr17:43093770-43093773 (-)
Exon 11 Deletion c.1759_1762del4 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 1878_1881del4
chr17:41245786-41245789 (-) chr17:43093769-43093772 (-)
Exon 11 Missense c.1766G>T p.S589I 3 - Uncertain 0.050387597 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1885G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 2.6
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 2.6
chr17:41245782:- chr17:43093765:-
Exon 11 Missense c.1772T>C p.I591T 2 - Likely not pathogenic or of little clinical significance 0.002868568 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1891T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.123752175
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.140964222
chr17:41245776:- chr17:43093759:-
Exon 11 Deletion c.1772delT 5 - Definitely pathogenic >0.99 Li (2019) IJC 144, 1195
BIC nucleic acid #: 1891delT
chr17:41245776 (-) chr17:43093759 (-)
Exon 11 Deletion c.1779_1785del7 5 - Definitely pathogenic >0.99 Rashid (2019) HCCP 17,
BIC nucleic acid #: 1898_1904del7
chr17:41245763-41245769 (-) chr17:43093746-43093752 (-)
Exon 11 Nonsense c.1789G>T p.E597* 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 1908G>T
chr17:41245759:- chr17:43093742:-
Exon 11 Missense c.1789G>A p.E597K 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1908G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 2.82E-07
  • Co-occurrence: 0.01202
  • Functional assay:
  • Case Control:
  • Products of LRs: 3.39E-09
chr17:41245759:- chr17:43093742:-
Exon 11 Nonsense c.1793T>A p.L598* 5 - Definitely pathogenic >0.99 Norquist (2011) J Clin Oncol 29; 3008
BIC nucleic acid #: 1912T>A
chr17:41245755:- chr17:43093738:-
Exon 11 Nonsense c.1793T>G p.L598* 5 - Definitely pathogenic >0.99 Bergman (2005) Fam Cancer 4; 89
BIC nucleic acid #: 1912T>G
chr17:41245755:- chr17:43093738:-
Exon 11 Deletion c.1801delC 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 1920delC
chr17:41245747 (-) chr17:43093730 (-)
Exon 11 Deletion c.1805delA 5 - Definitely pathogenic >0.99 Vehmanen (1997) Hum Mol Genet 6; 2309
BIC nucleic acid #: 1924delA
chr17:41245743 (-) chr17:43093726 (-)
Exon 11 Deletion c.1812delA 5 - Definitely pathogenic >0.99 Susswein (2016) GENET MED 18, 823
BIC nucleic acid #: 1931delA
chr17:41245736 (-) chr17:43093719 (-)
Exon 11 Deletion c.1817delC 5 - Definitely pathogenic >0.99 Uhrhammer (2008) Int J Med Sci 5; 197
BIC nucleic acid #: 1936delC
chr17:41245731 (-) chr17:43093714 (-)
Exon 11 Nonsense c.1819A>T p.K607* 5 - Definitely pathogenic >0.99 Gayther (1999) Am J Hum Genet 65; 1021
BIC nucleic acid #: 1938A>T
chr17:41245729:- chr17:43093712:-
Exon 11 Deletion c.1823delA 5 - Definitely pathogenic >0.99 Ahn (2007) Cancer Lett 245; 90
BIC nucleic acid #: 1942delA
chr17:41245725 (-) chr17:43093708 (-)
Exon 11 Deletion c.1823_1826del4 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 1942_1945del4
chr17:41245722-41245725 (-) chr17:43093705-43093708 (-)
Exon 11 Deletion c.1831delC p.L611* 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 1950delC
chr17:41245717 (-) chr17:43093700 (-)
Exon 11 Missense c.1834A>G p.R612G 1 - Not pathogenic or of no clinical significance 0.000492152 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1953A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.34
  • Sum Family: 0.066489318
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.024127306
chr17:41245714:- chr17:43093697:-
Exon 11 Deletion c.1837delA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 1956delA
chr17:41245711 (-) chr17:43093694 (-)
Exon 11 Nonsense c.1840A>T p.K614* 5 - Definitely pathogenic >0.99 Loizidou (2007) Clin Genet 71; 165
BIC nucleic acid #: 1959A>T
chr17:41245708:- chr17:43093691:-
Exon 11 Insertion c.1846dupT 5 - Definitely pathogenic >0.99 Fu (2007) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24; 341
BIC nucleic acid #: 1965dupT
chr17:41245701-41245702 (-) chr17:43093684-43093685 (-)
Exon 11 Deletion c.1847delC 5 - Definitely pathogenic >0.99 Kang (2014) BCRT 144, 635
BIC nucleic acid #: 1966delC
chr17:41245701 (-) chr17:43093684 (-)
Exon 11 Deletion c.1846_1848delTCT p.S616del 5 - Definitely pathogenic >0.99 Ellis (2000) J Med Genet 37; 792
BIC nucleic acid #: 1965_1967delTCT
chr17:41245700-41245702 (-) chr17:43093683-43093685 (-)
Exon 11 Deletion c.1860delT 5 - Definitely pathogenic >0.99 Gonzalez-Rivera (2016) BCRT 156, 507
BIC nucleic acid #: 1979delT
chr17:41245688 (-) chr17:43093671 (-)
Exon 11 Missense c.1865C>T p.A622V 1 - Not pathogenic or of no clinical significance 0.00002 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1984C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00037
  • Co-occurrence: 2.82
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00104
chr17:41245683:- chr17:43093666:-
Exon 11 Missense c.1865C>G p.A622G 3 - Uncertain 0.070587835 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1984C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 3.602289204
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 3.721496293
chr17:41245683:- chr17:43093666:-
Exon 11 Insertion c.1874_1877dup4 5 - Definitely pathogenic >0.99 Balz (2002) Cancer Genet Cytogenet 138; 120
BIC nucleic acid #: 1993_1996dup4
chr17:41245670-41245671 (-) chr17:43093653-43093654 (-)
Exon 11 Missense c.1879G>A p.V627I 2 - Likely not pathogenic or of little clinical significance 0.004336792 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 1998G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.193568727
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.213428413
chr17:41245669:- chr17:43093652:-
Exon 11 Deletion c.1881_1884del4 5 - Definitely pathogenic >0.99 Gayther (1999) Am J Hum Genet 65; 1021
BIC nucleic acid #: 2000_2003del4
chr17:41245664-41245667 (-) chr17:43093647-43093650 (-)
Exon 11 Deletion c.1889delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2008delA
chr17:41245659 (-) chr17:43093642 (-)
Exon 11 Insertion c.1892dupT 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 2011dupT
chr17:41245655-41245656 (-) chr17:43093638-43093639 (-)
Exon 11 Insertion c.1898_1899ins14 5 - Definitely pathogenic >0.99 Minucci (2015) ERMD 15, 1383
BIC nucleic acid #: 2017_2018ins14
chr17:41245649-41245650 (-) chr17:43093632-43093633 (-)
Exon 11 Insertion c.1887_1900dup14 5 - Definitely pathogenic >0.99 Tedaldi (2017) ONCTARG epub, epub
BIC nucleic acid #: 2006_2019dup14
chr17:41245647-41245648 (-) chr17:43093630-43093631 (-)
Exon 11 Insertion c.1900_1901ins14 5 - Definitely pathogenic >0.99 Santonocito (2017) BREAST 36, 74
BIC nucleic acid #: 2019_2020ins14
chr17:41245647-41245648 (-) chr17:43093630-43093631 (-)
Exon 11 Missense c.1903A>G p.N635D 2 - Likely not pathogenic or of little clinical significance 0.007934592 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2022A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.379351112
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.391904613
chr17:41245645:- chr17:43093628:-
Exon 11 Deletion c.1906delT 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 2025delT
chr17:41245642 (-) chr17:43093625 (-)
Exon 11 Nonsense c.1912G>T p.E638* 5 - Definitely pathogenic >0.99 Moleshi (2003) Am J Med Genet 117A; 304
BIC nucleic acid #: 2031G>T
chr17:41245636:- chr17:43093619:-
Exon 11 Deletion c.1912delG 5 - Definitely pathogenic >0.99 Diez (2003) Hum Mutat 22; 301
BIC nucleic acid #: 2031delG
chr17:41245636 (-) chr17:43093619 (-)
Exon 11 Nonsense c.1916T>A p.L639* 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 2035T>A
chr17:41245632:- chr17:43093615:-
Exon 11 Nonsense c.1918C>T p.Q640* 5 - Definitely pathogenic >0.99 Gabaldo Barrios (2014) FAM CAN 13, 431
BIC nucleic acid #: 2037C>T
chr17:41245630:- chr17:43093613:-
Exon 11 Insertion c.1921dupA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 2040dupA
chr17:41245626-41245627 (-) chr17:43093609-43093610 (-)
Exon 11 Insertion c.1922_1923insA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 2041_2042insA
chr17:41245625-41245626 (-) chr17:43093608-43093609 (-)
Exon 11 Missense c.1924G>C p.D642H 1 - Not pathogenic or of no clinical significance 0.00001 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2043G>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.00324
  • Pathology:
  • Sum Family: 0.178
  • Co-occurrence: 1.17
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00067
chr17:41245624:- chr17:43093607:-
Exon 11 Missense c.1927A>G p.S643G 1 - Not pathogenic or of no clinical significance 0.000549605 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2046A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.0625
  • Pathology:
  • Sum Family: 0.417317436
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.026945458
chr17:41245621:- chr17:43093604:-
Exon 11 Deletion c.1930delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2049delT
chr17:41245618 (-) chr17:43093601 (-)
Exon 11 Deletion c.1934delC 5 - Definitely pathogenic >0.99 Lin (2016) Oncotarget : [Additional report]
BIC nucleic acid #: 2053delC
chr17:41245614 (-) chr17:43093597 (-)
Exon 11 Deletion c.1936delA 5 - Definitely pathogenic >0.99 Jang (2012) J Hum Genet 57; 212
BIC nucleic acid #: 2055delA
chr17:41245612 (-) chr17:43093595 (-)
Exon 11 Deletion c.1938_1945del8 5 - Definitely pathogenic >0.99 Teixeira (2018) EJHG 26, 848
BIC nucleic acid #: 2057_2064del8
chr17:41245603-41245610 (-) chr17:43093586-43093593 (-)
Exon 11 Nonsense c.1945G>T p.E649* 5 - Definitely pathogenic >0.99 Li (2006) Int J Gynecol Cancer 16S1; 172
BIC nucleic acid #: 2064G>T
chr17:41245603:- chr17:43093586:-
Exon 11 Deletion c.1938_1947del10 5 - Definitely pathogenic >0.99 Ciernikova (2003) Neoplasma 50; 403
BIC nucleic acid #: 2057_2066del10
chr17:41245601-41245610 (-) chr17:43093584-43093593 (-)
Exon 11 Deletion c.1949_1950delTA 5 - Definitely pathogenic >0.99 Diez (2011) Oncol Lett 2; 1287
BIC nucleic acid #: 2068_2069delTA
chr17:41245598-41245599 (-) chr17:43093581-43093582 (-)
Exon 11 Deletion c.1952delA 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 2071delA
chr17:41245596 (-) chr17:43093579 (-)
Exon 11 Insertion c.1952dupA 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 2071dupA
chr17:41245595-41245596 (-) chr17:43093578-43093579 (-)
Exon 11 Deletion c.1953delG 5 - Definitely pathogenic >0.99 Kwon (2019) CRTRT 51, 941
BIC nucleic acid #: 2072delG
chr17:41245595 (-) chr17:43093578 (-)
Exon 11 Insertion c.1953dupG 5 - Definitely pathogenic >0.99 Oros (2004) Int J Cancer 112; 411
BIC nucleic acid #: 2072dupG
chr17:41245594-41245595 (-) chr17:43093577-43093578 (-)
Exon 11 Deletion c.1953_1956del4 5 - Definitely pathogenic >0.99 van Orsouw (1999) J Med Genet 36; 747
BIC nucleic acid #: 2072_2073del4
chr17:41245592-41245595 (-) chr17:43093575-43093578 (-)
Exon 11 Nonsense c.1960A>T p.K654* 5 - Definitely pathogenic >0.99 Weitzel (2005) Cancer Epidemiol Biomarkers Prev 14; 1666
BIC nucleic acid #: 2079A>T
chr17:41245588:- chr17:43093571:-
Exon 11 Missense c.1960A>C p.K654Q 2 - Likely not pathogenic or of little clinical significance 0.004338241 Parsons et al., Hum Mutat, 40:1557-1578, 2019 Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
Osorio A et al., Hum Mutat, 28:477-485, 2007.
BIC nucleic acid #: 2079A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.61
  • Sum Family: 0.35
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.2135
chr17:41245588:- chr17:43093571:-
Exon 11 Deletion c.1958_1961del4 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 2077_2080del4
chr17:41245587-41245590 (-) chr17:43093570-43093573 (-)
Exon 11 Deletion c.1961delA 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 2080delA
chr17:41245587 (-) chr17:43093570 (-)
Exon 11 Insertion c.1961dupA 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 2080dupA
chr17:41245586-41245587 (-) chr17:43093569-43093570 (-)
Exon 11 Insertion c.1962dupG 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 2081dupG
chr17:41245585-41245586 (-) chr17:43093568-43093569 (-)
Exon 11 Insertion c.1963_1964insG 5 - Definitely pathogenic >0.99 Gayther (1999) Am J Hum Genet 65; 1021
BIC nucleic acid #: 2082_2083insG
chr17:41245584-41245585 (-) chr17:43093567-43093568 (-)
Exon 11 Insertion c.1963dupT 5 - Definitely pathogenic >0.99 Lim (2009) J Cancer Res Clin Oncol 135; 1593
BIC nucleic acid #: 2082dupT
chr17:41245584-41245585 (-) chr17:43093567-43093568 (-)
Exon 11 Nonsense c.1965C>A p.Y655* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2084C>A
chr17:41245583:- chr17:43093566:-
Exon 11 Nonsense c.1969C>T p.Q657* 5 - Definitely pathogenic >0.99 Peixoto (2006) Fam Cancer 5; 379
BIC nucleic acid #: 2088C>T
chr17:41245579:- chr17:43093562:-
Exon 11 Deletion c.1996delC 5 - Definitely pathogenic >0.99 Schneegans (2012) Fam Cancer 11; 181
BIC nucleic acid #: 2115delC
chr17:41245552 (-) chr17:43093535 (-)
Exon 11 Nonsense c.1999C>T p.Q667* 5 - Definitely pathogenic >0.99 Foglietta (2020) GB 11, 925
BIC nucleic acid #: 2118C>T
chr17:41245549:- chr17:43093532:-
Exon 11 Missense c.2002C>T p.L668F 1 - Not pathogenic or of no clinical significance 0.00019 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2121C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1.26
  • Pathology:
  • Sum Family: 0.00141
  • Co-occurrence: 5.37
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00954
chr17:41245546:- chr17:43093529:-
Exon 11 Insertion c.2005dupA 5 - Definitely pathogenic >0.99 Cardoso (2018) HUM GENOM 12, 39
BIC nucleic acid #: 2124dupA
chr17:41245542-41245543 (-) chr17:43093525-43093526 (-)
Exon 11 Missense c.2006T>C p.M669T 2 - Likely not pathogenic or of little clinical significance 0.001931494 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2125T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.083247838
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.094826347
chr17:41245542:- chr17:43093525:-
Exon 11 Nonsense c.2008G>T p.E670* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2127G>T
chr17:41245540:- chr17:43093523:-
Exon 11 Insertion c.2012dupG 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 2131dupG
chr17:41245535-41245536 (-) chr17:43093518-43093519 (-)
Exon 11 Insertion c.2012_2013dupGT 5 - Definitely pathogenic >0.99 Chen (2009) Breast Cancer Res Treat 117; 55
BIC nucleic acid #: 2131_2132dupGT
chr17:41245534-41245535 (-) chr17:43093517-43093518 (-)
Exon 11 Insertion c.2013dupT 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 2132dupT
chr17:41245534-41245535 (-) chr17:43093517-43093518 (-)
Exon 11 Nonsense c.2014A>T p.K672* 5 - Definitely pathogenic >0.99 van der Stoep (2009) Hum Mutat 30; 899
BIC nucleic acid #: 2133A>T
chr17:41245534:- chr17:43093517:-
Exon 11 Missense c.2014A>G p.K672E 2 - Likely not pathogenic or of little clinical significance 0.008097166 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2133A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.4
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.4
chr17:41245534:- chr17:43093517:-
Exon 11 Nonsense c.2017G>T p.E673* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 2136G>T
chr17:41245531:- chr17:43093514:-
Exon 11 Deletion c.2019delA 5 - Definitely pathogenic >0.99 Yazici (2002) Hum Mutat 20; 28
BIC nucleic acid #: 2138delA
chr17:41245529 (-) chr17:43093512 (-)
Exon 11 Deletion c.2021delC 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 2140delC
chr17:41245527 (-) chr17:43093510 (-)
Exon 11 Deletion c.2028_2029delTG 5 - Definitely pathogenic >0.99 Yoshihara (2011) Genes Chromosomes Cancer 50; 167
BIC nucleic acid #: 2147_2148delTG
chr17:41245519-41245520 (-) chr17:43093502-43093503 (-)
Exon 11 Nonsense c.2035A>T p.K679* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 2154A>T
chr17:41245513:- chr17:43093496:-
Exon 11 Indel c.2037delGinsCC 5 - Definitely pathogenic >0.99 Peixoto (2006) Fam Cancer 5; 379
BIC nucleic acid #: 2156delGinsCC
chr17:41245511 (-) chr17:43093494 (-)
Exon 11 Insertion c.2038_2039insCC 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 2157_2158insCC
chr17:41245509-41245510 (-) chr17:43093492-43093493 (-)
Exon 11 Missense c.2042G>T p.S681I 2 - Likely not pathogenic or of little clinical significance 0.008027761 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2161G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.383841549
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.396543648
chr17:41245506:- chr17:43093489:-
Exon 11 Insertion c.2043dupT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2162dupT
chr17:41245504-41245505 (-) chr17:43093487-43093488 (-)
Exon 11 Deletion c.2048delA 5 - Definitely pathogenic >0.99 Kim (2006) Biochem Biophys Res Commun 349; 604
BIC nucleic acid #: 2167delA
chr17:41245500 (-) chr17:43093483 (-)
Exon 11 Missense c.2050C>T p.P684S 2 - Likely not pathogenic or of little clinical significance 0.001493907 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2169C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.066489318
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.073310963
chr17:41245498:- chr17:43093481:-
Exon 11 Nonsense c.2056G>T p.E686* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 2175G>T
chr17:41245492:- chr17:43093475:-
Exon 11 Nonsense c.2059C>T p.Q687* 5 - Definitely pathogenic >0.99 Worsham (1998) Diagn Mol Pathol 7; 164
BIC nucleic acid #: 2178C>T
chr17:41245489:- chr17:43093472:-
Exon 11 Missense c.2060A>C p.Q687P 2 - Likely not pathogenic or of little clinical significance 0.00672794 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2179A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.31097962
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.331902067
chr17:41245488:- chr17:43093471:-
Exon 11 Deletion c.2063_2066del4 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 2182_2185del4
chr17:41245482-41245485 (-) chr17:43093465-43093468 (-)
Exon 11 Nonsense c.2068A>T p.K690* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2187A>T
chr17:41245480:- chr17:43093463:-
Exon 11 Deletion c.2071delA 5 - Definitely pathogenic >0.99 Andersen (1998) Hum Mutat 11; 166
BIC nucleic acid #: 2190delA
chr17:41245477 (-) chr17:43093460 (-)
Exon 11 Deletion c.2074delC 5 - Definitely pathogenic >0.99 Hegde (2000) Hum Mutat 16; 422
BIC nucleic acid #: 2193delC
chr17:41245474 (-) chr17:43093457 (-)
Exon 11 Deletion c.2075_2076delAT 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 2194_2195delAT
chr17:41245472-41245473 (-) chr17:43093455-43093456 (-)
Exon 11 Missense c.2077G>A p.D693N 1 - Not pathogenic or of no clinical significance 0 Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2196G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 1.00E-10
  • Functional assay:
  • Case Control:
  • Products of LRs: 1.00E-10
chr17:41245471:- chr17:43093454:-
Exon 11 Deletion c.2077delG 5 - Definitely pathogenic >0.99 Couch (2015) JCO 33, 304
BIC nucleic acid #: 2196delG
chr17:41245471 (-) chr17:43093454 (-)
Exon 11 Insertion c.2077_2078insTA 5 - Definitely pathogenic >0.99 Cotrim (2019) BMC C 19, 4
BIC nucleic acid #: 2196_2197insTA
chr17:41245470-41245471 (-) chr17:43093453-43093454 (-)
Exon 11 Deletion c.2080delA 5 - Definitely pathogenic >0.99 Drusedau (2013) EJHG 21, 1361
BIC nucleic acid #: 2199delA
chr17:41245468 (-) chr17:43093451 (-)
Exon 11 Missense c.2083G>T p.D695N 1 - Not pathogenic or of no clinical significance 0.000263283 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2202G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.009626799
  • Co-occurrence: 1.340451569
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.012904257
chr17:41245465:- chr17:43093448:-
Exon 11 Deletion c.2086delA 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 2205delA
chr17:41245462 (-) chr17:43093445 (-)
Exon 11 Insertion c.2086dupA 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 2205dupA
chr17:41245461-41245462 (-) chr17:43093444-43093445 (-)
Exon 11 Deletion c.2090delT 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 2209delT
chr17:41245458 (-) chr17:43093441 (-)
Exon 11 Insertion c.2090dupT 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 2209dupT
chr17:41245457-41245458 (-) chr17:43093440-43093441 (-)
Exon 11 Deletion c.2093delC 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 2212delC
chr17:41245455 (-) chr17:43093438 (-)
Exon 11 Deletion c.2101_2102delAA 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC 151, 145
BIC nucleic acid #: 2220_2221delAA
chr17:41245446-41245447 (-) chr17:43093429-43093430 (-)
Exon 11 Nonsense c.2105T>G p.L702* 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC 151, 145
BIC nucleic acid #: 2224T>G
chr17:41245443:- chr17:43093426:-
Exon 11 Insertion c.2105dupT 5 - Definitely pathogenic >0.99 Bonache (2018) JCRCO 144, 2495
BIC nucleic acid #: 2224dupT
chr17:41245442-41245443 (-) chr17:43093425-43093426 (-)
Exon 11 Deletion c.2110_2111delAA 5 - Definitely pathogenic >0.99 Bergman (2005) Fam Cancer 4; 89
BIC nucleic acid #: 2229_2230delAA
chr17:41245437-41245438 (-) chr17:43093420-43093421 (-)
Exon 11 Deletion c.2111delA 5 - Definitely pathogenic >0.99 Hirasawa (2017) ONCTARG 8, 112258
BIC nucleic acid #: 2230delA
chr17:41245437 (-) chr17:43093420 (-)
Exon 11 Missense c.2123C>A p.S708Y 3 - Uncertain 0.07073772 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2242C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 3.73
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 3.73
chr17:41245425:- chr17:43093408:-
Exon 11 Insertion c.2125_2126insA 5 - Definitely pathogenic >0.99 Laplace-Marieze (1999) Int J Oncol 14; 971
BIC nucleic acid #: 2244_2245insA
chr17:41245422-41245423 (-) chr17:43093405-43093406 (-)
Exon 11 Deletion c.2126_2127delTT 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 2245_2246delTT
chr17:41245421-41245422 (-) chr17:43093404-43093405 (-)
Exon 11 Insertion c.2126_2127insA 5 - Definitely pathogenic >0.99 Gonzalez-Rivera (2016) BCRT 156, 507
BIC nucleic acid #: 2245_2246insA
chr17:41245421-41245422 (-) chr17:43093404-43093405 (-)
Exon 11 Deletion c.2127delT 5 - Definitely pathogenic >0.99 Wang (2019) CMED 8, 2074
BIC nucleic acid #: 2246delT
chr17:41245421 (-) chr17:43093404 (-)
Exon 11 Deletion c.2131_2132delAA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 2250_2251delAA
chr17:41245416-41245417 (-) chr17:43093399-43093400 (-)
Exon 11 Deletion c.2135delG 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 2254delG
chr17:41245413 (-) chr17:43093396 (-)
Exon 11 Nonsense c.2138C>A p.S713* 5 - Definitely pathogenic >0.99 Donenberg (2016) BCRT 159, 131
BIC nucleic acid #: 2257C>A
chr17:41245410:- chr17:43093393:-
Exon 11 Nonsense c.2138C>G p.S713* 5 - Definitely pathogenic >0.99 Vaziri (2000) Hum Mutat 17; 74
BIC nucleic acid #: 2257C>G
chr17:41245410:- chr17:43093393:-
Exon 11 Deletion c.2145delC 5 - Definitely pathogenic >0.99 Teixeira (2018) EJHG 26, 848
BIC nucleic acid #: 2264delC
chr17:41245403 (-) chr17:43093386 (-)
Exon 11 Deletion c.2143_2147del5 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 2262_2266del5
chr17:41245401-41245405 (-) chr17:43093384-43093388 (-)
Exon 11 Deletion c.2147delG 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 2266delG
chr17:41245401 (-) chr17:43093384 (-)
Exon 11 Nonsense c.2149G>T p.E717* 5 - Definitely pathogenic >0.99 Rashid (2016) BMC C 16,
BIC nucleic acid #: 2268G>T
chr17:41245399:- chr17:43093382:-
Exon 11 Insertion c.2157dupA 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 2276dupA
chr17:41245390-41245391 (-) chr17:43093373-43093374 (-)
Exon 11 Nonsense c.2158G>T p.E720* 5 - Definitely pathogenic >0.99 Tworek (1999) Cancer Genet Cytogenet 112; 105
BIC nucleic acid #: 2277G>T
chr17:41245390:- chr17:43093373:-
Exon 11 Deletion c.2157_2160del4 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 2276_2279del4
chr17:41245388-41245391 (-) chr17:43093371-43093374 (-)
Exon 11 Deletion c.2160delA 5 - Definitely pathogenic >0.99 Shi (2017) IJC 140, 2051
BIC nucleic acid #: 2279delA
chr17:41245388 (-) chr17:43093371 (-)
Exon 11 Deletion c.2166delC 5 - Definitely pathogenic >0.99 Yang (2011) JAMA 306; 1557
BIC nucleic acid #: 2285delC
chr17:41245382 (-) chr17:43093365 (-)
Exon 11 Missense c.2167A>G p.N723D 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2286A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 13.48963
  • Co-occurrence: 1.15E-09
  • Functional assay:
  • Case Control:
  • Products of LRs: 1.55E-08
chr17:41245381:- chr17:43093364:-
Exon 11 Deletion c.2155_2168del14 5 - Definitely pathogenic >0.99 Papi (2009) Breast Cancer Res Treat 117; 497
BIC nucleic acid #: 2274_2287del14
chr17:41245380-41245393 (-) chr17:43093363-43093376 (-)
Exon 11 Deletion c.2174delG 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 2293delG
chr17:41245374 (-) chr17:43093357 (-)
Exon 11 Deletion c.2176delC 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 2295delC
chr17:41245372 (-) chr17:43093355 (-)
Exon 11 Deletion c.2176_2177delCT 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 2295_2296delCT
chr17:41245371-41245372 (-) chr17:43093354-43093355 (-)
Exon 11 Missense c.2180C>T p.P727L 1 - Not pathogenic or of no clinical significance 0.000166584 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2299C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.0628
  • Pathology: 0.13
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.008164
chr17:41245368:- chr17:43093351:-
Exon 11 Missense c.2183G>A p.R728K 2 - Likely not pathogenic or of little clinical significance 0.002680254 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2302G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.127467244
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.131685395
chr17:41245365:- chr17:43093348:-
Exon 11 Deletion c.2184delA 5 - Definitely pathogenic >0.99 Li (2019) IJC 144, 1195
BIC nucleic acid #: 2303delA
chr17:41245364 (-) chr17:43093347 (-)
Exon 11 Nonsense c.2185G>T p.E729* 5 - Definitely pathogenic >0.99 Heramb (2018) HCCP 16,
BIC nucleic acid #: 2304G>T
chr17:41245363:- chr17:43093346:-
Exon 11 Nonsense c.2188G>T p.E730* 5 - Definitely pathogenic >0.99 Lee (2011) J Clin Oncol 29; 4373
BIC nucleic acid #: 2307G>T
chr17:41245360:- chr17:43093343:-
Exon 11 Deletion c.2193delA 5 - Definitely pathogenic >0.99 Krivokuca (2019) JHG 64, 281
BIC nucleic acid #: 2312delA
chr17:41245355 (-) chr17:43093338 (-)
Exon 11 Nonsense c.2194G>T p.E732* 5 - Definitely pathogenic >0.99 Kadouri (2004) Int J Cancer 108; 399
BIC nucleic acid #: 2313G>T
chr17:41245354:- chr17:43093337:-
Exon 11 Indel c.2194delGinsAA 5 - Definitely pathogenic >0.99 Bonache (2018) JCRCO 144, 2495
BIC nucleic acid #: 2313delGinsAA
chr17:41245354 (-) chr17:43093337 (-)
Exon 11 Indel c.2188_2195del8ins7 5 - Definitely pathogenic >0.99 Mehta (2018) CMRES 10, 6505
BIC nucleic acid #: 2307_2314del8
chr17:41245353-41245360 (-) chr17:43093336-43093343 (-)
Exon 11 Deletion c.2192_2196del5 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 2311_2315del5
chr17:41245352-41245356 (-) chr17:43093335-43093339 (-)
Exon 11 Deletion c.2193_2196del4 5 - Definitely pathogenic >0.99 Matsushima (1995) Hum Mol Genet 4; 1953
BIC nucleic acid #: 2312_2315del4
chr17:41245352-41245355 (-) chr17:43093335-43093338 (-)
Exon 11 Deletion c.2196delA 5 - Definitely pathogenic >0.99 Smith (2001) Gynecol Oncol 83; 586
BIC nucleic acid #: 2315delA
chr17:41245352 (-) chr17:43093335 (-)
Exon 11 Nonsense c.2197G>T p.E733* 5 - Definitely pathogenic >0.99 Litton (2012) Cancer 118; 321
BIC nucleic acid #: 2316G>T
chr17:41245351:- chr17:43093334:-
Exon 11 Deletion c.2199delG 5 - Definitely pathogenic >0.99 Al-Sukhni (2008) Hum Genet 124; 271
BIC nucleic acid #: 2318delG
chr17:41245349 (-) chr17:43093332 (-)
Exon 11 Deletion c.2188_2201del14 5 - Definitely pathogenic >0.99 Lim (2009) Nat Med 15; 907
BIC nucleic acid #: 2307_2320del14
chr17:41245347-41245360 (-) chr17:43093330-43093343 (-)
Exon 11 Deletion c.2197_2201del5 5 - Definitely pathogenic >0.99 Hogervorst (1995) Nat Genet 10; 208
BIC nucleic acid #: 2316_2320del5
chr17:41245347-41245351 (-) chr17:43093330-43093334 (-)
Exon 11 Deletion c.2202delA 5 - Definitely pathogenic >0.99 Gao (2020) HUM MUT 41, 696
BIC nucleic acid #: 2321delA
chr17:41245346 (-) chr17:43093329 (-)
Exon 11 Nonsense c.2206G>T p.E736* 5 - Definitely pathogenic >0.99 Bu (2019) JOGR, 45, 2267
BIC nucleic acid #: 2325G>T
chr17:41245342:- chr17:43093325:-
Exon 11 Missense c.2207A>C p.E736A 2 - Likely not pathogenic or of little clinical significance 0.005015311 Parsons et al., Hum Mutat, 40:1557-1578, 2019 Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008.
BIC nucleic acid #: 2326A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.32
  • Sum Family: 0.700020165
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.246988977
chr17:41245341:- chr17:43093324:-
Exon 11 Deletion c.2210delC 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 2329delC
chr17:41245338 (-) chr17:43093321 (-)
Exon 11 Deletion c.2210_2211delCA 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 2329_2330delCA
chr17:41245337-41245338 (-) chr17:43093320-43093321 (-)
Exon 11 Deletion c.2211_2212delAG 5 - Definitely pathogenic >0.99 Smith (2001) Gynecol Oncol 83; 586
BIC nucleic acid #: 2330_2331delAG
chr17:41245336-41245337 (-) chr17:43093319-43093320 (-)
Exon 11 Deletion c.2212_2215del4 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 2331_2334del4
chr17:41245333-41245336 (-) chr17:43093316-43093319 (-)
Exon 11 Insertion c.2214dupT 5 - Definitely pathogenic >0.99 Mannan (2016) JHG 61, 515
BIC nucleic acid #: 2333dupT
chr17:41245333-41245334 (-) chr17:43093316-43093317 (-)
Exon 11 Nonsense c.2215A>T p.K739* 5 - Definitely pathogenic >0.99 Maistro (2016) BMC C 16,
BIC nucleic acid #: 2334A>T
chr17:41245333:- chr17:43093316:-
Exon 11 Deletion c.2216_2217delAA 5 - Definitely pathogenic >0.99 Yassaee (2002) Breast Cancer Res 4; R6
BIC nucleic acid #: 2335_2336delAA
chr17:41245331-41245332 (-) chr17:43093314-43093315 (-)
Exon 11 Indel c.2214_2218del5insAAA 5 - Definitely pathogenic >0.99 Teixeira (2018) EJHG 26, 848
BIC nucleic acid #: 2333_2337del5insAAA
chr17:41245330-41245334 (-) chr17:43093313-43093317 (-)
Exon 11 Insertion c.2217dupA 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 2336dupA
chr17:41245330-41245331 (-) chr17:43093313-43093314 (-)
Exon 11 Insertion c.2236dupG 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 2355dupG
chr17:41245311-41245312 (-) chr17:43093294-43093295 (-)
Exon 11 Deletion c.2241delC 5 - Definitely pathogenic >0.99 Infante (2006) J Hum Genet 51; 611
BIC nucleic acid #: 2360delC
chr17:41245307 (-) chr17:43093290 (-)
Exon 11 Insertion c.2241dupC 5 - Definitely pathogenic >0.99 Negura (2010) Fam Cancer 9; 519
BIC nucleic acid #: 2360dupC
chr17:41245306-41245307 (-) chr17:43093289-43093290 (-)
Exon 11 Missense c.2245G>T p.D749Y 2 - Likely not pathogenic or of little clinical significance 0.00845048 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2364G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.404225807
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.417602463
chr17:41245303:- chr17:43093286:-
Exon 11 Missense c.2246A>T p.D749V 3 - Uncertain 0.081824469 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2365A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 4.091433851
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 4.366702073
chr17:41245302:- chr17:43093285:-
Exon 11 Insertion c.2250dupC 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 2369dupC
chr17:41245297-41245298 (-) chr17:43093280-43093281 (-)
Exon 11 Deletion c.2248_2252del5 5 - Definitely pathogenic >0.99 Zhang (2012) Breast Cancer Res Treat 132; 421
BIC nucleic acid #: 2367_2371del5
chr17:41245296-41245300 (-) chr17:43093279-43093283 (-)
Exon 11 Missense c.2252T>C p.M751T 3 - Uncertain 0.060913139 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2371T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 2.79026366
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 3.178346922
chr17:41245296:- chr17:43093279:-
Exon 11 Deletion c.2253_2254delGT 5 - Definitely pathogenic >0.99 Khoo (2000) Hum Mutat 16; 88
BIC nucleic acid #: 2372_2373delGT
chr17:41245294-41245295 (-) chr17:43093277-43093278 (-)
Exon 11 Insertion c.2257dupA 5 - Definitely pathogenic >0.99 Heramb (2018) HCCP 16, 3
BIC nucleic acid #: 2376dupA
chr17:41245290-41245291 (-) chr17:43093273-43093274 (-)
Exon 11 Nonsense c.2263G>T p.E755* 5 - Definitely pathogenic >0.99 Ramus (1997) Am J Hum Genet 60; 1242
BIC nucleic acid #: 2382G>T
chr17:41245285:- chr17:43093268:-
Exon 11 Deletion c.2269delG 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 2388delG
chr17:41245279 (-) chr17:43093262 (-)
Exon 11 Deletion c.2272_2273delTT 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 2391_2392delTT
chr17:41245275-41245276 (-) chr17:43093258-43093259 (-)
Exon 11 Nonsense c.2275C>T p.Q759* 5 - Definitely pathogenic >0.99 Juwle (2012) Med Oncol 29; 3272
BIC nucleic acid #: 2394C>T
chr17:41245273:- chr17:43093256:-
Exon 11 Nonsense c.2281G>T p.E761* 5 - Definitely pathogenic >0.99 Trujillano (2015) JMD 17, 162
BIC nucleic acid #: 2400G>T
chr17:41245267:- chr17:43093250:-
Exon 11 Deletion c.2283_2284delAA 5 - Definitely pathogenic >0.99 Johannsson (1996) Am J Hum Genet 58; 441
BIC nucleic acid #: 2402_2403delAA
chr17:41245264-41245265 (-) chr17:43093247-43093248 (-)
Exon 11 Deletion c.2285_2286delGA 5 - Definitely pathogenic >0.99 Gabaldo Barrios (2017) FAM CAN,
BIC nucleic acid #: 2404_2405delGA
chr17:41245262-41245263 (-) chr17:43093245-43093246 (-)
Exon 11 Missense c.2286A>T p.R762S 2 - Likely not pathogenic or of little clinical significance 0.00990099 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2405A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.49
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.49
chr17:41245262:- chr17:43093245:-
Exon 11 Nonsense c.2293G>T p.E765* 5 - Definitely pathogenic >0.99 Heramb (2018) HCCP 16,
BIC nucleic acid #: 2412G>T
chr17:41245255:- chr17:43093238:-
Exon 11 Missense c.2294A>G p.E765G 3 - Uncertain 0.063045324 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2413A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 3.191474402
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 3.297086792
chr17:41245254:- chr17:43093237:-
Exon 11 Insertion c.2294dupA 5 - Definitely pathogenic >0.99 Chen (2020) BCRT 180, 759
BIC nucleic acid #: 2413dupA
chr17:41245253-41245254 (-) chr17:43093236-43093237 (-)
Exon 11 Deletion c.2295delG 5 - Definitely pathogenic >0.99 Mehta (2018) CMRES 10, 6505
BIC nucleic acid #: 2414delG
chr17:41245253 (-) chr17:43093236 (-)
Exon 11 Deletion c.2296_2297delAG p.S766* 5 - Definitely pathogenic >0.99 Friedman (1994) Nat Genet 8; 399
BIC nucleic acid #: 2415_2416delAG
chr17:41245251-41245252 (-) chr17:43093234-43093235 (-)
Exon 11 Deletion c.2299delA 5 - Definitely pathogenic >0.99 Tworek (1999) Cancer Genet Cytogenet 112; 105
BIC nucleic acid #: 2418delA
chr17:41245249 (-) chr17:43093232 (-)
Exon 11 Deletion c.2300delG 5 - Definitely pathogenic >0.99 Momozawa (2018) NAT COMM 9,
BIC nucleic acid #: 2419delG
chr17:41245248 (-) chr17:43093231 (-)
Exon 11 Deletion c.2302delA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 2421delA
chr17:41245246 (-) chr17:43093229 (-)
Exon 11 Deletion c.2308delT 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 2427delT
chr17:41245240 (-) chr17:43093223 (-)
Exon 11 Nonsense c.2309C>A p.S770* 5 - Definitely pathogenic >0.99 Santarosa (1998) Int J Cancer 78; 581
BIC nucleic acid #: 2428C>A
chr17:41245239:- chr17:43093222:-
Exon 11 Insertion c.2292_2310dup19 5 - Definitely pathogenic >0.99 Infante (2006) J Hum Genet 51; 611
BIC nucleic acid #: 2411_2429dup19
chr17:41245237-41245238 (-) chr17:43093220-43093221 (-)
Exon 11 Insertion c.2310_2311insC 5 - Definitely pathogenic >0.99 Sng (2000) Br J Cancer 82; 538
BIC nucleic acid #: 2429_2430insC
chr17:41245237-41245238 (-) chr17:43093220-43093221 (-)
Exon 11 Insertion c.2311_2312insC 5 - Definitely pathogenic >0.99 Bhaskaran (2019) IJC,
BIC nucleic acid #: 2430_2431insC
chr17:41245236-41245237 (-) chr17:43093219-43093220 (-)
Exon 11 Deletion c.2314delG 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 2433delG
chr17:41245234 (-) chr17:43093217 (-)
Exon 11 Deletion c.2314_2315delGT 5 - Definitely pathogenic >0.99 Rashid (2019) HCCP 17,
BIC nucleic acid #: 2433_2434delGT
chr17:41245233-41245234 (-) chr17:43093216-43093217 (-)
Exon 11 Missense c.2315T>C p.V772A 1 - Not pathogenic or of no clinical significance 0 Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2434T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 9.40E-06
  • Functional assay:
  • Case Control:
  • Products of LRs: 9.40E-06
chr17:41245233:- chr17:43093216:-
Exon 11 Deletion c.2311_2317del7 5 - Definitely pathogenic >0.99 Barnes-Kedar (2018) BCRT 172, 151
BIC nucleic acid #: 2430_2436del7
chr17:41245231-41245237 (-) chr17:43093214-43093220 (-)
Exon 11 Insertion c.2325_2326insA 5 - Definitely pathogenic >0.99 Garcia-Patino (1998) J Clin Oncol 16; 115
BIC nucleic acid #: 2444_2445insA
chr17:41245222-41245223 (-) chr17:43093205-43093206 (-)
Exon 11 Deletion c.2324_2327del4 5 - Definitely pathogenic >0.99 Bu (2019) JOGR, 45, 2267
BIC nucleic acid #: 2443_2446del4
chr17:41245221-41245224 (-) chr17:43093204-43093207 (-)
Exon 11 Deletion c.2329delT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 2448delT
chr17:41245219 (-) chr17:43093202 (-)
Exon 11 Nonsense c.2331T>G p.Y777* 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 2450T>G
chr17:41245217:- chr17:43093200:-
Exon 11 Nonsense c.2338C>T p.Q780* 5 - Definitely pathogenic >0.99 Hogervorst (1995) Nat Genet 10; 208
BIC nucleic acid #: 2457C>T
chr17:41245210:- chr17:43093193:-
Exon 11 Missense c.2338C>A p.Q780K 2 - Likely not pathogenic or of little clinical significance 0.008689579 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2457C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.415763269
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.429521722
chr17:41245210:- chr17:43093193:-
Exon 11 Deletion c.2340_2343del4 5 - Definitely pathogenic >0.99 Rashid (2019) HCCP 17,
BIC nucleic acid #: 2459_2462del4
chr17:41245205-41245208 (-) chr17:43093188-43093191 (-)
Exon 11 Deletion c.2345delG 5 - Definitely pathogenic >0.99 Kim (2017) BMC MG 18,
BIC nucleic acid #: 2464delG
chr17:41245203 (-) chr17:43093186 (-)
Exon 11 Missense c.2346T>A p.S782R 2 - Likely not pathogenic or of little clinical significance 0.005752409 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2465T>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.274417782
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.283498825
chr17:41245202:- chr17:43093185:-
Exon 11 Deletion c.2347_2348delAT 5 - Definitely pathogenic >0.99 Zhang (2015) NEJM 373, 2336
BIC nucleic acid #: 2466_2467delAT
chr17:41245200-41245201 (-) chr17:43093183-43093184 (-)
Exon 11 Deletion c.2350_2351delTC 5 - Definitely pathogenic >0.99 Montagna (2002) Int J Cancer 98; 732
BIC nucleic acid #: 2469_2470delTC
chr17:41245197-41245198 (-) chr17:43093180-43093181 (-)
Exon 11 Missense c.2351C>T p.S784L 1 - Not pathogenic or of no clinical significance 7.11E-05 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2470C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.5224
  • Pathology: 0.044
  • Sum Family: 0.102497783
  • Co-occurrence: 1.477978681
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.003482078
chr17:41245197:- chr17:43093180:-
Exon 11 Nonsense c.2354T>A p.L785* 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 2473T>A
chr17:41245194:- chr17:43093177:-
Exon 11 Insertion c.2355dupA 5 - Definitely pathogenic >0.99 Schroeder (2015) BCRT 152, 129
BIC nucleic acid #: 2474dupA
chr17:41245192-41245193 (-) chr17:43093175-43093176 (-)
Exon 11 Deletion c.2356delC 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 2475delC
chr17:41245192 (-) chr17:43093175 (-)
Exon 11 Deletion c.2351_2357del7 5 - Definitely pathogenic >0.99 Moller (2007) Eur J Cancer 43; 1713
BIC nucleic acid #: 2470_2476del7
chr17:41245191-41245197 (-) chr17:43093174-43093180 (-)
Exon 11 Deletion c.2357delT 5 - Definitely pathogenic >0.99 Yazici (2002) Hum Mutat 20; 28
BIC nucleic acid #: 2476delT
chr17:41245191 (-) chr17:43093174 (-)
Exon 11 Deletion c.2359delG 5 - Definitely pathogenic >0.99 Kim (2006) Biochem Biophys Res Commun 349; 604
BIC nucleic acid #: 2478delG
chr17:41245189 (-) chr17:43093172 (-)
Exon 11 Insertion c.2359dupG 5 - Definitely pathogenic >0.99 Sibille-Hoang (1998) Eur J Cancer Prev 7; 53
BIC nucleic acid #: 2478dupG
chr17:41245188-41245189 (-) chr17:43093171-43093172 (-)
Exon 11 Deletion c.2362delG 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 2481delG
chr17:41245186 (-) chr17:43093169 (-)
Exon 11 Missense c.2368A>G p.T790A 2 - Likely not pathogenic or of little clinical significance 0.0085435 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2487A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.38
  • Sum Family: 0.638868365
  • Co-occurrence: 1.739254919
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.42223888
chr17:41245180:- chr17:43093163:-
Exon 11 Insertion c.2380dupG 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 2479dupG
chr17:41245167-41245168 (-) chr17:43093150-43093151 (-)
Exon 11 Nonsense c.2389G>T p.E797* 5 - Definitely pathogenic >0.99 Liede (1998) Am J Hum Genet 62; 1543
BIC nucleic acid #: 2508G>T
chr17:41245159:- chr17:43093142:-
Exon 11 Deletion c.2389delG 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 2508delG
chr17:41245159 (-) chr17:43093142 (-)
Exon 11 Deletion c.2389_2390delGA 5 - Definitely pathogenic >0.99 Yamashita (1999) Breast Cancer Res Treat 58; 11
BIC nucleic acid #: 2508_2509delGA
chr17:41245158-41245159 (-) chr17:43093141-43093142 (-)
Exon 11 Deletion c.2390_2391delAA 5 - Definitely pathogenic >0.99 Schehl (1997) J Natl Cancer Inst 89; 1547
BIC nucleic acid #: 2509_2510delAA
chr17:41245157-41245158 (-) chr17:43093140-43093141 (-)
Exon 11 Deletion c.2393delC 5 - Definitely pathogenic >0.99 Sung (2017) PLOS ONE 12, e0185615
BIC nucleic acid #: 2512delC
chr17:41245155 (-) chr17:43093138 (-)
Exon 11 Deletion c.2398_2401del4 5 - Definitely pathogenic >0.99 Grzymski (2020) NAT MED 26, 1235
BIC nucleic acid #: 2517_2520del4
chr17:41245147-41245150 (-) chr17:43093130-43093133 (-)
Exon 11 Deletion c.2405_2406delTG 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 2524_2525delTG
chr17:41245142-41245143 (-) chr17:43093125-43093126 (-)
Exon 11 Deletion c.2407_2408delAG 5 - Definitely pathogenic >0.99 Yi (2019) HUM GENOM 13, 4
BIC nucleic acid #: 2526_2527delAG
chr17:41245140-41245141 (-) chr17:43093123-43093124 (-)
Exon 11 Deletion c.2406_2409del4 5 - Definitely pathogenic >0.99 Weitzel (2005) Cancer Epidemiol Biomarkers Prev 14; 1666
BIC nucleic acid #: 2525_2508del4
chr17:41245139-41245142 (-) chr17:43093122-43093125 (-)
Exon 11 Nonsense c.2410C>T p.Q804* 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 2529C>T
chr17:41245138:- chr17:43093121:-
Exon 11 Deletion c.2410_2411delCA 5 - Definitely pathogenic >0.99 El Saghir (2015) ONC 20, 357
BIC nucleic acid #: 2529_2530delCA
chr17:41245137-41245138 (-) chr17:43093120-43093121 (-)
Exon 11 Deletion c.2411delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2530delA
chr17:41245137 (-) chr17:43093120 (-)
Exon 11 Deletion c.2411_2412delAG 5 - Definitely pathogenic >0.99 Rothfuss (2000) Cancer Res 60; 390
BIC nucleic acid #: 2530_2531delAG
chr17:41245136-41245137 (-) chr17:43093119-43093120 (-)
Exon 11 Missense c.2412G>C p.Q804H 1 - Not pathogenic or of no clinical significance 0.00045 Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2531G>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1.12
  • Pathology: 0.0087
  • Sum Family:
  • Co-occurrence: 2.244
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.02187
chr17:41245136:- chr17:43093119:-
Exon 11 Deletion c.2418delA 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 2537delA
chr17:41245130 (-) chr17:43093113 (-)
Exon 11 Insertion c.2418dupA 5 - Definitely pathogenic >0.99 Mighri (2020) FRONT GEN 11,
BIC nucleic acid #: 2537dupA
chr17:41245129-41245130 (-) chr17:43093112-43093113 (-)
Exon 11 Missense c.2428A>T p.N810Y 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2547A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.0575
  • Pathology:
  • Sum Family: 0.0038
  • Co-occurrence: 5.25E-08
  • Functional assay:
  • Case Control:
  • Products of LRs: 1.15E-11
chr17:41245120:- chr17:43093103:-
Exon 11 Deletion c.2429delA 5 - Definitely pathogenic >0.99 Jung (2008) Anal Bioanal Chem 391; 405
BIC nucleic acid #: 2548delA
chr17:41245119 (-) chr17:43093102 (-)
Exon 11 Deletion c.2433delC 5 - Definitely pathogenic >0.99 Weitzel (2005) Cancer Epidemiol Biomarkers Prev 14; 1666
BIC nucleic acid #: 2552delC
chr17:41245115 (-) chr17:43093098 (-)
Exon 11 Nonsense c.2434A>T p.K812* 5 - Definitely pathogenic >0.99 Laplace-Marieze (1999) Int J Oncol 14; 971
BIC nucleic acid #: 2553A>T
chr17:41245114:- chr17:43093097:-
Exon 11 Nonsense c.2437G>T p.G813* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2556G>T
chr17:41245111:- chr17:43093094:-
Exon 11 Insertion c.2438dupG 5 - Definitely pathogenic >0.99 Heramb (2018) HCCP 16,
BIC nucleic acid #: 2557dupG
chr17:41245109-41245110 (-) chr17:43093092-43093093 (-)
Exon 11 Insertion c.2440_2441insA 5 - Definitely pathogenic >0.99 Al-Mulla (2009) J Clin Pathol 62; 350
BIC nucleic acid #: 2559_2560insA
chr17:41245107-41245108 (-) chr17:43093090-43093091 (-)
Exon 11 Deletion c.2443delA 5 - Definitely pathogenic >0.99 Manickam (2018) JAMA NET O 1,
BIC nucleic acid #: 2562delA
chr17:41245105 (-) chr17:43093088 (-)
Exon 11 Deletion c.2445delT 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC,
BIC nucleic acid #: 2564delT
chr17:41245103 (-) chr17:43093086 (-)
Exon 11 Insertion c.2445dupT 5 - Definitely pathogenic >0.99 Deng (2019) IJC,
BIC nucleic acid #: 2564dupT
chr17:41245102-41245103 (-) chr17:43093085-43093086 (-)
Exon 11 Missense c.2447A>G p.H816R 2 - Likely not pathogenic or of little clinical significance 0.002388664 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2566A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.074377831
  • Co-occurrence: 1.577415842
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.117324769
chr17:41245101:- chr17:43093084:-
Exon 11 Deletion c.2445_2448del4 5 - Definitely pathogenic >0.99 Teixeira (2018) EJHG 26, 848
BIC nucleic acid #: 2564_2567del4
chr17:41245100-41245103 (-) chr17:43093083-43093086 (-)
Exon 11 Missense c.2452T>G p.C818G 2 - Likely not pathogenic or of little clinical significance 0.009418329 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2571T>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.450962699
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.465885974
chr17:41245096:- chr17:43093079:-
Exon 11 Deletion c.2457delC 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 2576delC
chr17:41245091 (-) chr17:43093074 (-)
Exon 11 Missense c.2458A>G p.K820E 1 - Not pathogenic or of no clinical significance 0 Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2577A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Case Control:
  • Products of LRs: <1e-10
chr17:41245090:- chr17:43093073:-
Exon 11 Insertion c.2471dupA 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 2590dupA
chr17:41245076-41245077 (-) chr17:43093059-43093060 (-)
Exon 11 Deletion c.2475delC 5 - Definitely pathogenic >0.99 Plummer (1995) Hum Mol Genet 4; 1989
BIC nucleic acid #: 2594delC
chr17:41245073 (-) chr17:43093056 (-)
Exon 11 Deletion c.2476delA 5 - Definitely pathogenic >0.99 Johannsson (1996) Am J Hum Genet 58; 441
BIC nucleic acid #: 2595delA
chr17:41245072 (-) chr17:43093055 (-)
Exon 11 Missense c.2477C>A p.T826K 1 - Not pathogenic or of no clinical significance 0 Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2596C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.4985
  • Pathology: 1
  • Sum Family:
  • Co-occurrence: 0.0000002
  • Functional assay:
  • Case Control:
  • Products of LRs: 9.97E-08
chr17:41245071:- chr17:43093054:-
Exon 11 Deletion c.2477delC 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 2596delC
chr17:41245071 (-) chr17:43093054 (-)
Exon 11 Deletion c.2477_2478delCA 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 2596_2597delCA
chr17:41245070-41245071 (-) chr17:43093053-43093054 (-)
Exon 11 Deletion c.2481delA 5 - Definitely pathogenic >0.99 Janavicius (2014) CG 207, 195
BIC nucleic acid #: 2600delA
chr17:41245067 (-) chr17:43093050 (-)
Exon 11 Missense c.2482G>A p.G828S 2 - Likely not pathogenic or of little clinical significance 0.001157899 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2601G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.051517266
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.056802814
chr17:41245066:- chr17:43093049:-
Exon 11 Deletion c.2483delG 5 - Definitely pathogenic >0.99 Bu (2019) JOGR, 45, 2267
BIC nucleic acid #: 2602delG
chr17:41245065 (-) chr17:43093048 (-)
Exon 11 Deletion c.2486_2487delTT 5 - Definitely pathogenic >0.99 Jara (2006) Cancer Genet Cytogenet 166; 36
BIC nucleic acid #: 2605_2606delTT
chr17:41245061-41245062 (-) chr17:43093044-43093045 (-)
Exon 11 Deletion c.2487delT 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 2606delT
chr17:41245061 (-) chr17:43093044 (-)
Exon 11 Insertion c.2487dupT 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 2606dupT
chr17:41245060-41245061 (-) chr17:43093043-43093044 (-)
Exon 11 Insertion c.2491dupT 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC,
BIC nucleic acid #: 2610dupT
chr17:41245056-41245057 (-) chr17:43093039-43093040 (-)
Exon 11 Insertion c.2488_2497dup10 p.K833* 5 - Definitely pathogenic >0.99 Machackova (2001) Hum Mutat 18; 545
BIC nucleic acid #: 2607_2616dup10
chr17:41245050-41245051 (-) chr17:43093033-43093034 (-)
Exon 11 Insertion c.2490_2497dup8 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 2609_2616dup8
chr17:41245050-41245051 (-) chr17:43093033-43093034 (-)
Exon 11 Deletion c.2501delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2620delG
chr17:41245047 (-) chr17:43093030 (-)
Exon 11 Missense c.2503C>T p.H835D 2 - Likely not pathogenic or of little clinical significance 0.006338851 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2622C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.274417782
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.312585124
chr17:41245045:- chr17:43093028:-
Exon 11 Insertion c.2488_2504dup17 5 - Definitely pathogenic >0.99 George (2013) Clin Cancer Res 19; 3474
BIC nucleic acid #: 2607_2623dup17
chr17:41245043-41245044 (-) chr17:43093026-43093027 (-)
Exon 11 Deletion c.2506delG 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 2625delG
chr17:41245042 (-) chr17:43093025 (-)
Exon 11 Deletion c.2507_2508delAA 5 - Definitely pathogenic >0.99 De Leeneer (2012) Breast Cancer Res Treat 132; 87
BIC nucleic acid #: 2626_2627delAA
chr17:41245040-41245041 (-) chr17:43093023-43093024 (-)
Exon 11 Deletion c.2513delA 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 2632delA
chr17:41245035 (-) chr17:43093018 (-)
Exon 11 Insertion c.2513dupA 5 - Definitely pathogenic >0.99 Shi (2017) IJC 140, 2051
BIC nucleic acid #: 2632dupA
chr17:41245034-41245035 (-) chr17:43093017-43093018 (-)
Exon 11 Deletion c.2515delC 5 - Definitely pathogenic >0.99 King (2001) JAMA 286; 2251
BIC nucleic acid #: 2634delC
chr17:41245033 (-) chr17:43093016 (-)
Exon 11 Deletion c.2517_2518delCA 5 - Definitely pathogenic >0.99 Krainer (1997) N Engl J Med 336; 1419
BIC nucleic acid #: 2636_2637delCA
chr17:41245030-41245031 (-) chr17:43093013-43093014 (-)
Exon 11 Deletion c.2518delA 5 - Definitely pathogenic >0.99 Couch (1997) N Engl J Med 336; 1409
BIC nucleic acid #: 2637delA
chr17:41245030 (-) chr17:43093013 (-)
Exon 11 Missense c.2521C>T p.R841W 1 - Not pathogenic or of no clinical significance 0 Goldgar et al., AJHG 75: 535-544, 2004. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2640C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 4.00E-09
  • Pathology:
  • Sum Family:
  • Co-occurrence: 0.028
  • Functional assay:
  • Case Control:
  • Products of LRs: 1.12E-10
chr17:41245027:- chr17:43093010:-
Exon 11 Missense c.2522G>A p.R841Q 2 - Likely not pathogenic or of little clinical significance 0.002653803 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2641G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.5054
  • Pathology: 3.547345256
  • Sum Family: 0.043197225
  • Co-occurrence: 1.68354305
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.13038234
chr17:41245026:- chr17:43093009:-
Exon 11 Insertion c.2524dupG 5 - Definitely pathogenic >0.99 Soegaard (2008) CCR 14, 3761
BIC nucleic acid #: 2643dupG
chr17:41245023-41245024 (-) chr17:43093006-43093007 (-)
Exon 11 Missense c.2525A>G p.E842G 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2644A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.0603
  • Co-occurrence: 0.00347
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00021
chr17:41245023:- chr17:43093006:-
Exon 11 Deletion c.2530delA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 2649delA
chr17:41245018 (-) chr17:43093001 (-)
Exon 11 Indel c.2538_2540delAATinsG 5 - Definitely pathogenic >0.99 Rashid (2019) HCCP 17,
BIC nucleic acid #: 2657_2659delAATinsG
chr17:41245008-41245010 (-) chr17:43092991-43092993 (-)
Exon 11 Nonsense c.2545G>T p.E849* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 2664G>T
chr17:41245003:- chr17:43092986:-
Exon 11 Deletion c.2551delG 5 - Definitely pathogenic >0.99 Troudi (2008) Cancer Biomark 4; 11
BIC nucleic acid #: 2670delG
chr17:41244997 (-) chr17:43092980 (-)
Exon 11 Insertion c.2553_2554ins10 5 - Definitely pathogenic >0.99 Deng (2019) MGGM 7,
BIC nucleic acid #: 2672_2673ins10
chr17:41244994-41244995 (-) chr17:43092977-43092978 (-)
Exon 11 Deletion c.2556delT 5 - Definitely pathogenic >0.99 Emi (1998) Jpn J Cancer Res 89; 12
BIC nucleic acid #: 2675delT
chr17:41244992 (-) chr17:43092975 (-)
Exon 11 Insertion c.2556dupT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2675dupT
chr17:41244991-41244992 (-) chr17:43092974-43092975 (-)
Exon 11 Insertion c.2556_2557ins10 5 - Definitely pathogenic >0.99 Zhong (2016) PLOS ONE 11, e0156789
BIC nucleic acid #: 2675_2676ins10
chr17:41244991-41244992 (-) chr17:43092974-43092975 (-)
Exon 11 Insertion c.2557_2558ins10 5 - Definitely pathogenic >0.99 Gao (2020) HUM MUT 41, 696
BIC nucleic acid #: 2676_2677ins10
chr17:41244990-41244991 (-) chr17:43092973-43092974 (-)
Exon 11 Insertion c.2558dupA 5 - Definitely pathogenic >0.99 Lim (2009) Nat Med 15; 907
BIC nucleic acid #: 2677dupA
chr17:41244989-41244990 (-) chr17:43092972-43092973 (-)
Exon 11 Insertion c.2560_2561dupGC 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 2679_2680dupGC
chr17:41244986-41244987 (-) chr17:43092969-43092970 (-)
Exon 11 Nonsense c.2563C>T p.Q855* 5 - Definitely pathogenic >0.99 Perkowska (2003) Hum Mutat 21; 553
BIC nucleic acid #: 2682C>T
chr17:41244985:- chr17:43092968:-
Exon 11 Missense c.2564A>C p.Q855P 2 - Likely not pathogenic or of little clinical significance 0.008496979 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2683A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 1.0498
  • Pathology: 0.4
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.41992
chr17:41244984:- chr17:43092967:-
Exon 11 Deletion c.2561_2565del5 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 2680_2684del5
chr17:41244983-41244987 (-) chr17:43092966-43092970 (-)
Exon 11 Missense c.2566T>C p.Y856H 1 - Not pathogenic or of no clinical significance 0.00018 Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2685T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 8.80E-03
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.0088
chr17:41244982:- chr17:43092965:-
Exon 11 Nonsense c.2568T>G p.Y856* 5 - Definitely pathogenic >0.99 Delgado (2010) Breast Cancer Res Treat 128; 211
BIC nucleic acid #: 2687T>G
chr17:41244980:- chr17:43092963:-
Exon 11 Nonsense c.2570T>A p.L857* 5 - Definitely pathogenic >0.99 Zhong (2016) PLOS ONE 11, e0156789
BIC nucleic acid #: 2689T>A
chr17:41244978:- chr17:43092961:-
Exon 11 Nonsense c.2572C>T p.Q858* 5 - Definitely pathogenic >0.99 Mote (2004) Genes Chromosomes Cancer 39; 236
BIC nucleic acid #: 2691C>T
chr17:41244976:- chr17:43092959:-
Exon 11 Insertion c.2577_2578insTT 5 - Definitely pathogenic >0.99 Kwong (2016) JMD 18, 580
BIC nucleic acid #: 2696_2697insTT
chr17:41244970-41244971 (-) chr17:43092953-43092954 (-)
Exon 11 Insertion c.2578_2579insTT 5 - Definitely pathogenic >0.99 Gao (2020) HUM MUT 41, 696
BIC nucleic acid #: 2697_2698insTT
chr17:41244969-41244970 (-) chr17:43092952-43092953 (-)
Exon 11 Missense c.2584A>G p.K862E 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2703A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.269
  • Pathology:
  • Sum Family: 0.00117
  • Co-occurrence: 1.55
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00049
chr17:41244964:- chr17:43092947:-
Exon 11 Nonsense c.2591C>G p.S864* 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 2710C>G
chr17:41244957:- chr17:43092940:-
Exon 11 Nonsense c.2591C>A p.S864* 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC,
BIC nucleic acid #: 2710C>A
chr17:41244957:- chr17:43092940:-
Exon 11 Nonsense c.2593A>T p.K865* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 2712A>T
chr17:41244955:- chr17:43092938:-
Exon 11 Deletion c.2594delA 5 - Definitely pathogenic >0.99 Miesfeldt (1998) Cancer Genet Cytogenet 100; 43
BIC nucleic acid #: 2713delA
chr17:41244954 (-) chr17:43092937 (-)
Exon 11 Missense c.2596C>T p.R866C 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2715C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.00234
  • Pathology:
  • Sum Family: 2.00E-08
  • Co-occurrence: 0.0174
  • Functional assay:
  • Case Control:
  • Products of LRs: 8.14E-13
chr17:41244952:- chr17:43092935:-
Exon 11 Missense c.2597G>A p.R866H 1 - Not pathogenic or of no clinical significance 0.000573601 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2716G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.023897916
  • Co-occurrence: 1.176779436
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.028122576
chr17:41244951:- chr17:43092934:-
Exon 11 Nonsense c.2599C>T p.Q867* 5 - Definitely pathogenic >0.99 Siraj (2017) HUM GENET 136, 1431
BIC nucleic acid #: 2718C>T
chr17:41244949:- chr17:43092932:-
Exon 11 Nonsense c.2603C>A p.S868* 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 2722C>A
chr17:41244945:- chr17:43092928:-
Exon 11 Nonsense c.2603C>G p.S868* 5 - Definitely pathogenic >0.99 Walsh (2011) Proc Natl Acad Sci U S A 108: 18032
BIC nucleic acid #: 2722C>G
chr17:41244945:- chr17:43092928:-
Exon 11 Insertion c.2601_2604dup4 5 - Definitely pathogenic >0.99 Tworek (1999) Cancer Genet Cytogenet 112; 105
BIC nucleic acid #: 2720_2723dup4
chr17:41244943-41244944 (-) chr17:43092926-43092927 (-)
Exon 11 Deletion c.2611_2612delCC 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 2730_2731delCC
chr17:41244936-41244937 (-) chr17:43092919-43092920 (-)
Exon 11 Missense c.2612C>T p.P871L 1 - Not pathogenic or of no clinical significance 0 Tavtigian SV et al., J Med Genet, 43:295-305, 2006 Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2731C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.02
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Case Control:
  • Products of LRs: <1e-10
chr17:41244936:- chr17:43092919:-
Exon 11 Indel c.2612delCinsTT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2731delCinsTT
chr17:41244936 (-) chr17:43092919 (-)
Exon 11 Insertion c.2612_2613insT 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 2731_2732insT
chr17:41244935-41244936 (-) chr17:43092918-43092919 (-)
Exon 11 Insertion c.2612dupC 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2731dupC
chr17:41244935-41244936 (-) chr17:43092918-43092919 (-)
Exon 11 Insertion c.2617dupT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2736dupT
chr17:41244930-41244931 (-) chr17:43092913-43092914 (-)
Exon 11 Deletion c.2621delA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 2740delA
chr17:41244927 (-) chr17:43092910 (-)
Exon 11 Deletion c.2630delA 5 - Definitely pathogenic >0.99 Ryu (2019) BCRT 173, 385
BIC nucleic acid #: 2749delA
chr17:41244918 (-) chr17:43092901 (-)
Exon 11 Nonsense c.2635G>T p.E879* 5 - Definitely pathogenic >0.99 Khoo (2000) Hum Mutat 15; 485
BIC nucleic acid #: 2754G>T
chr17:41244913:- chr17:43092896:-
Exon 11 Nonsense c.2641G>T p.E881* 5 - Definitely pathogenic >0.99 Reeves (2004) Int J Cancer 110; 677
BIC nucleic acid #: 2760G>T
chr17:41244907:- chr17:43092890:-
Exon 11 Deletion c.2643delA 5 - Definitely pathogenic >0.99 Tikhomirova (2007) Genetika 43; 1263
BIC nucleic acid #: 2762delA
chr17:41244905 (-) chr17:43092888 (-)
Exon 11 Insertion c.2643dupA 5 - Definitely pathogenic >0.99 Bu (2019) JOGR, 45, 2267
BIC nucleic acid #: 2762dupA
chr17:41244904-41244905 (-) chr17:43092887-43092888 (-)
Exon 11 Deletion c.2646_2648delTGC 5 - Definitely pathogenic >0.99 Verhoog (1998) Lancet 351; 316
BIC nucleic acid #: 2765_2767delTGC
chr17:41244900-41244902 (-) chr17:43092883-43092885 (-)
Exon 11 Insertion c.2647_2648ins4 5 - Definitely pathogenic >0.99 Stavropoulou (2013) PLoS One 8; e58182
BIC nucleic acid #: 2766_2767ins4
chr17:41244900-41244901 (-) chr17:43092883-43092884 (-)
Exon 11 Insertion c.2649_2650ins4 5 - Definitely pathogenic >0.99 Yassaee (2016) APJCP 17SpNo, 149
BIC nucleic acid #: 2768_2769ins4
chr17:41244898-41244899 (-) chr17:43092881-43092882 (-)
Exon 11 Missense c.2650A>G p.T884A 2 - Likely not pathogenic or of little clinical significance 0.001399866 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2769A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.066489318
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.068689585
chr17:41244898:- chr17:43092881:-
Exon 11 Deletion c.2657_2658delCT 5 - Definitely pathogenic >0.99 Gayther (1999) Am J Hum Genet 65; 1021
BIC nucleic acid #: 2776_2777delCT
chr17:41244890-41244891 (-) chr17:43092873-43092874 (-)
Exon 11 Insertion c.2658_2659insA 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 2777_2778insA
chr17:41244889-41244890 (-) chr17:43092872-43092873 (-)
Exon 11 Insertion c.2659_2660insA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 2778_2779insA
chr17:41244888-41244889 (-) chr17:43092871-43092872 (-)
Exon 11 Insertion c.2659dupG 5 - Definitely pathogenic >0.99 Weber (2004) Anal Chem 76; 4839
BIC nucleic acid #: 2778dupG
chr17:41244888-41244889 (-) chr17:43092871-43092872 (-)
Exon 11 Insertion c.2665dupT 5 - Definitely pathogenic >0.99 Purnomosari (2007) Breast Cancer Res Treat 106; 297
BIC nucleic acid #: 2784dupT
chr17:41244882-41244883 (-) chr17:43092865-43092866 (-)
Exon 11 Missense c.2668G>C p.G890R 2 - Likely not pathogenic or of little clinical significance 0.005555245 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2787G>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.24825704
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.273727617
chr17:41244880:- chr17:43092863:-
Exon 11 Missense c.2669G>T p.G890V 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007 Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2788G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.02
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00014
  • Co-occurrence: 1.45
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.0002
chr17:41244879:- chr17:43092862:-
Exon 11 Deletion c.2670delG 5 - Definitely pathogenic >0.99 Troudi (2007) J Hum Genet 52; 915
BIC nucleic acid #: 2789delG
chr17:41244878 (-) chr17:43092861 (-)
Exon 11 Deletion c.2671delT 5 - Definitely pathogenic >0.99 Hu (2003) Hum Mutat 22; 104
BIC nucleic acid #: 2790delT
chr17:41244877 (-) chr17:43092860 (-)
Exon 11 Deletion c.2675_2678del4 5 - Definitely pathogenic >0.99 Gao (2020) HUM MUT 41, 696
BIC nucleic acid #: 2794_2797del4
chr17:41244870-41244873 (-) chr17:43092853-43092856 (-)
Exon 11 Insertion c.2678dupA 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 2797dupA
chr17:41244869-41244870 (-) chr17:43092852-43092853 (-)
Exon 11 Deletion c.2679_2680delGA 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2798_2799delGA
chr17:41244868-41244869 (-) chr17:43092851-43092852 (-)
Exon 11 Deletion c.2679_2682del4 5 - Definitely pathogenic >0.99 Couch (1997) N Engl J Med 336; 1409
BIC nucleic acid #: 2798_2801del4
chr17:41244866-41244869 (-) chr17:43092849-43092852 (-)
Exon 11 Deletion c.2681_2682delAA 5 - Definitely pathogenic >0.99 Friedman (1994) Nat Genet 8; 399
BIC nucleic acid #: 2800_2801delAA
chr17:41244866-41244867 (-) chr17:43092849-43092850 (-)
Exon 11 Deletion c.2682delA 5 - Definitely pathogenic >0.99 Young (2009) BMC Cancer 9; 86
BIC nucleic acid #: 2801delA
chr17:41244866 (-) chr17:43092849 (-)
Exon 11 Nonsense c.2683C>T p.Q895* 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 2802C>T
chr17:41244865:- chr17:43092848:-
Exon 11 Deletion c.2683_2686del4 5 - Definitely pathogenic >0.99 Infante (2006) J Hum Genet 51; 611
BIC nucleic acid #: 2802_2805del4
chr17:41244862-41244865 (-) chr17:43092845-43092848 (-)
Exon 11 Deletion c.2685_2686delAA 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 2804_2805delAA
chr17:41244862-41244863 (-) chr17:43092845-43092846 (-)
Exon 11 Deletion c.2686delA 5 - Definitely pathogenic >0.99 Solano (2012) SpringerPlus 1;
BIC nucleic acid #: 2805delA
chr17:41244862 (-) chr17:43092845 (-)
Exon 11 Insertion c.2686dupA 5 - Definitely pathogenic >0.99 Donenberg (2016) BCRT 159, 131
BIC nucleic acid #: 2805dupA
chr17:41244861-41244862 (-) chr17:43092844-43092845 (-)
Exon 11 Insertion c.2689_2690insA 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 2808_2809insA
chr17:41244858-41244859 (-) chr17:43092841-43092842 (-)
Exon 11 Missense c.2692A>G p.K898E 2 - Likely not pathogenic or of little clinical significance 0.002267439 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2811A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.107790014
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.111357005
chr17:41244856:- chr17:43092839:-
Exon 11 Insertion c.2694dupA 5 - Definitely pathogenic >0.99 Pals (1999) Mol Diagn 4; 241
BIC nucleic acid #: 2813dupA
chr17:41244853-41244854 (-) chr17:43092836-43092837 (-)
Exon 11 Deletion c.2695delG 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 2814delG
chr17:41244853 (-) chr17:43092836 (-)
Exon 11 Deletion c.2702_2703delTT 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 2821delTT
chr17:41244845-41244846 (-) chr17:43092828-43092829 (-)
Exon 11 Deletion c.2706delA 5 - Definitely pathogenic >0.99 Zouk (2019) AJHG 105, 588
BIC nucleic acid #: 2825delA
chr17:41244842 (-) chr17:43092825 (-)
Exon 11 Insertion c.2706_2707dupAT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 2825_2826dupAT
chr17:41244840-41244841 (-) chr17:43092823-43092824 (-)
Exon 11 Nonsense c.2709T>A p.C903* 5 - Definitely pathogenic >0.99 Freire (2018) EJMG 61, 130
BIC nucleic acid #: 2828T>A
chr17:41244839:- chr17:43092822:-
Exon 11 Deletion c.2709_2710delTG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2828_2829delTG
chr17:41244838-41244839 (-) chr17:43092821-43092822 (-)
Exon 11 Nonsense c.2710G>T p.E904* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2829G>T
chr17:41244838:- chr17:43092821:-
Exon 11 Nonsense c.2713C>T p.Q905* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2832C>T
chr17:41244835:- chr17:43092818:-
Exon 11 Nonsense c.2716A>T p.K906* 5 - Definitely pathogenic >0.99 George (2013) Clin Cancer Res 19; 3474
BIC nucleic acid #: 2835A>T
chr17:41244832:- chr17:43092815:-
Exon 11 Deletion c.2717delA 5 - Definitely pathogenic >0.99 Li (2018) IJC,
BIC nucleic acid #: 2836delA
chr17:41244831 (-) chr17:43092814 (-)
Exon 11 Insertion c.2717dupA 5 - Definitely pathogenic >0.99 Vijayalakshmi (2011) Int J Hum Genet 11 127
BIC nucleic acid #: 2836dupA
chr17:41244830-41244831 (-) chr17:43092813-43092814 (-)
Exon 11 Nonsense c.2719G>T p.E907* 5 - Definitely pathogenic >0.99 Sirisena (2017) CMEDJ 62, 65
BIC nucleic acid #: 2838G>T
chr17:41244829:- chr17:43092812:-
Exon 11 Deletion c.2719_2722del4 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 2838_2841del4
chr17:41244826-41244829 (-) chr17:43092809-43092812 (-)
Exon 11 Nonsense c.2722G>T p.E908* 5 - Definitely pathogenic >0.99 Serova (1996) Am J Hum Genet 58; 42
BIC nucleic acid #: 2841G>T
chr17:41244826:- chr17:43092809:-
Exon 11 Deletion c.2726delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 2845delA
chr17:41244822 (-) chr17:43092805 (-)
Exon 11 Insertion c.2726dupA 5 - Definitely pathogenic >0.99 Ho (2000) Cancer 89; 811
BIC nucleic acid #: 2845dupA
chr17:41244821-41244822 (-) chr17:43092804-43092805 (-)
Exon 11 Nonsense c.2728C>T p.Q910* 5 - Definitely pathogenic >0.99 de Juan Jiménez (2012) Fam Cancer 11; 49
BIC nucleic acid #: 2847C>T
chr17:41244820:- chr17:43092803:-
Exon 11 Missense c.2728C>G p.Q910E 2 - Likely not pathogenic or of little clinical significance 0.002342184 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2847C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.111351606
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.115036457
chr17:41244820:- chr17:43092803:-
Exon 11 Deletion c.2728delC 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 2847delC
chr17:41244820 (-) chr17:43092803 (-)
Exon 11 Deletion c.2726_2730del5 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 2845_2849del5
chr17:41244818-41244822 (-) chr17:43092801-43092805 (-)
Exon 11 Deletion c.2727_2730del4 5 - Definitely pathogenic >0.99 Montagna (1996) Cancer Res 56; 5466
BIC nucleic acid #: 2846_2849del4
chr17:41244818-41244821 (-) chr17:43092801-43092804 (-)
Exon 11 Insertion c.2739dupT 5 - Definitely pathogenic >0.99 Singh (2018) BCRT 170, 189
BIC nucleic acid #: 2858dupT
chr17:41244808-41244809 (-) chr17:43092791-43092792 (-)
Exon 11 Nonsense c.2740G>T p.E914* 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 2859G>T
chr17:41244808:- chr17:43092791:-
Exon 11 Deletion c.2744_2745delCT 5 - Definitely pathogenic >0.99 Friedman (1994) Nat Genet 8; 399
BIC nucleic acid #: 2863_2864delCT
chr17:41244803-41244804 (-) chr17:43092786-43092787 (-)
Exon 11 Insertion c.2745dupT 5 - Definitely pathogenic >0.99 Uhrhammer (2008) Int J Med Sci 5; 197
BIC nucleic acid #: 2864dupT
chr17:41244802-41244803 (-) chr17:43092785-43092786 (-)
Exon 11 Deletion c.2749delA 5 - Definitely pathogenic >0.99 Momozawa (2018) NAT COMM 9,
BIC nucleic acid #: 2868delA
chr17:41244799 (-) chr17:43092782 (-)
Exon 11 Insertion c.2749dupA 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 2868dupA
chr17:41244798-41244799 (-) chr17:43092781-43092782 (-)
Exon 11 Deletion c.2751delC 5 - Definitely pathogenic >0.99 Wang (2019) MGGM 7,
BIC nucleic acid #: 2870delC
chr17:41244797 (-) chr17:43092780 (-)
Exon 11 Deletion c.2753delA 5 - Definitely pathogenic >0.99 Momozawa (2018) NAT COMM 9,
BIC nucleic acid #: 2872delA
chr17:41244795 (-) chr17:43092778 (-)
Exon 11 Missense c.2758G>A p.V920I 1 - Not pathogenic or of no clinical significance 0.000285122 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2877G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.1637
  • Pathology:
  • Sum Family: 0.070221117
  • Co-occurrence: 1.215721465
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.013974958
chr17:41244790:- chr17:43092773:-
Exon 11 Missense c.2759T>C p.V920A 1 - Not pathogenic or of no clinical significance 0 Whiley PJ, et al., PLoS One, 9:e86836, 2014 Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2878T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.02
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 2.00E-03
  • Pathology:
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 2.00E-03
chr17:41244789:- chr17:43092772:-
Exon 11 Deletion c.2760delA 5 - Definitely pathogenic >0.99 Guacci (2018) JCLA 32, e22418
BIC nucleic acid #: 2879delA
chr17:41244788 (-) chr17:43092771 (-)
Exon 11 Nonsense c.2761C>T p.Q921* 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 2880C>T
chr17:41244787:- chr17:43092770:-
Exon 11 Deletion c.2762delA 5 - Definitely pathogenic >0.99 Foretova (2004) Hum Mutat 23; 397
BIC nucleic acid #: 2881delA
chr17:41244786 (-) chr17:43092769 (-)
Exon 11 Missense c.2765C>G p.T922R 2 - Likely not pathogenic or of little clinical significance 0.005694054 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2884C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.9
  • Sum Family: 0.29213061
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.28060642
chr17:41244783:- chr17:43092766:-
Exon 11 Deletion c.2766delA 5 - Definitely pathogenic >0.99 Ho (2000) Cancer 89; 811
BIC nucleic acid #: 2885delA
chr17:41244782 (-) chr17:43092765 (-)
Exon 11 Deletion c.2764_2767del4 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 2883_2886del4
chr17:41244781-41244784 (-) chr17:43092764-43092767 (-)
Exon 11 Deletion c.2767_2770del4 5 - Definitely pathogenic >0.99 Pritchard (2016) NEJM 375, 443
BIC nucleic acid #: 2886_2889del4
chr17:41244778-41244781 (-) chr17:43092761-43092764 (-)
Exon 11 Missense c.2770A>G p.N924D 2 - Likely not pathogenic or of little clinical significance 0.00990099 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2889A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.49
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.49
chr17:41244778:- chr17:43092761:-
Exon 11 Missense c.2773A>C p.I925L 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2892A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.0389
  • Co-occurrence: 0.00407
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00016
chr17:41244775:- chr17:43092758:-
Exon 11 Deletion c.2775delC 5 - Definitely pathogenic >0.99 Bu (2019) JOGR, 45, 2267
BIC nucleic acid #: 2894delC
chr17:41244773 (-) chr17:43092756 (-)
Exon 11 Insertion c.2776_2777insTA 5 - Definitely pathogenic >0.99 Gao (2020) HUM MUT 41, 696
BIC nucleic acid #: 2895_2896insTA
chr17:41244771-41244772 (-) chr17:43092754-43092755 (-)
Exon 11 Missense c.2783G>A p.G928D 2 - Likely not pathogenic or of little clinical significance 0.002419504 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2902G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.111351606
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.118843248
chr17:41244765:- chr17:43092748:-
Exon 11 Deletion c.2783delG 5 - Definitely pathogenic >0.99 Li (2018) IJC,
BIC nucleic acid #: 2902delG
chr17:41244765 (-) chr17:43092748 (-)
Exon 11 Deletion c.2787delT 5 - Definitely pathogenic >0.99 Brovkina (2018) FRONC 8, 421
BIC nucleic acid #: 2906delT
chr17:41244761 (-) chr17:43092744 (-)
exon 11 Deletion c.2788_2795del8 5 - Definitely pathogenic >0.99 Wang (2015) ANN ONCO 26, 523
BIC nucleic acid #: 2907_2914del8
chr17:41244753-41244760 (-) chr17:43092736-43092743 (-)
Exon 11 Deletion c.2796delT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 2915delT
chr17:41244752 (-) chr17:43092735 (-)
Exon 11 Missense c.2798G>C p.G933A 1 - Not pathogenic or of no clinical significance 0.000150488 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2917G>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.0168
  • Sum Family: 0.42492836
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.007375034
chr17:41244750:- chr17:43092733:-
Exon 11 Deletion c.2796_2799del4 5 - Definitely pathogenic >0.99 Malone (1998) JAMA 279; 922
BIC nucleic acid #: 2915_2918del4
chr17:41244749-41244752 (-) chr17:43092732-43092735 (-)
Exon 11 Deletion c.2798_2799delGT 5 - Definitely pathogenic >0.99 Hu (2008) Zhonghua Yi Xue Za Zhi 88; 2383
BIC nucleic acid #: 2917_2918delGT
chr17:41244749-41244750 (-) chr17:43092732-43092733 (-)
Exon 11 Deletion c.2799delT 5 - Definitely pathogenic >0.99 Shi (2017) IJC 140, 2051
BIC nucleic acid #: 2918delT
chr17:41244749 (-) chr17:43092732 (-)
Exon 11 Nonsense c.2800C>T p.Q934* 5 - Definitely pathogenic >0.99 Kashima (2000) Jpn J Cancer Res 91; 399
BIC nucleic acid #: 2919C>T
chr17:41244748:- chr17:43092731:-
Exon 11 Deletion c.2802delG 5 - Definitely pathogenic >0.99 Chen (2020) BCRT 180, 759
BIC nucleic acid #: 2921delG
chr17:41244746 (-) chr17:43092729 (-)
Exon 11 Deletion c.2805delA 5 - Definitely pathogenic >0.99 Tazzite (2012) Gynecol Oncol 125; 687
BIC nucleic acid #: 2924delA
chr17:41244743 (-) chr17:43092726 (-)
Exon 11 Deletion c.2806_2809del4 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 2925_2928del4
chr17:41244739-41244742 (-) chr17:43092722-43092725 (-)
Exon 11 Deletion c.2808_2811del4 5 - Definitely pathogenic >0.99 Laplace-Marieze (1999) Int J Oncol 14; 971
BIC nucleic acid #: 2927_2930del4
chr17:41244737-41244740 (-) chr17:43092720-43092723 (-)
Exon 11 Deletion c.2812_2813delCC 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 2931_2932delCC
chr17:41244735-41244736 (-) chr17:43092718-43092719 (-)
Exon 11 Indel c.2812_2813delCCinsG 5 - Definitely pathogenic >0.99 Tchou (2007) Clin Breast Cancer 7; 627
BIC nucleic acid #: 2931_2932delCCinsG
chr17:41244735-41244736 (-) chr17:43092718-43092719 (-)
Exon 11 Deletion c.2814delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2933delA
chr17:41244734 (-) chr17:43092717 (-)
Exon 11 Deletion c.2823delT 5 - Definitely pathogenic >0.99 Manickam (2018) JAMA NET O 1,
BIC nucleic acid #: 2942delT
chr17:41244725 (-) chr17:43092708 (-)
Exon 11 Deletion c.2830delT 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 2949delT
chr17:41244718 (-) chr17:43092701 (-)
Exon 11 Nonsense c.2832T>A p.C944* 5 - Definitely pathogenic >0.99 Pal (2005) Cancer 104; 2807
BIC nucleic acid #: 2951T>A
chr17:41244716:- chr17:43092699:-
Exon 11 Deletion c.2834_2835delGT 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 2953_2954delGT
chr17:41244713-41244714 (-) chr17:43092696-43092697 (-)
Exon 11 Indel c.2834_2836delGTAinsC 5 - Definitely pathogenic >0.99 Durocher (1996) J Med Genet 33; 814
BIC nucleic acid #: 2953_2955delGTAinsC
chr17:41244712-41244714 (-) chr17:43092695-43092697 (-)
Exon 11 Insertion c.2835dupT 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 2954dupT
chr17:41244712-41244713 (-) chr17:43092695-43092696 (-)
Exon 11 Deletion c.2836_2837delAT 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 2955_2956delAT
chr17:41244711-41244712 (-) chr17:43092694-43092695 (-)
Exon 11 Indel c.2836_2837delATinsC 5 - Definitely pathogenic >0.99 George (2013) Clin Cancer Res 19; 3474
BIC nucleic acid #: 2955_2956delATinsC
chr17:41244711-41244712 (-) chr17:43092694-43092695 (-)
Exon 11 Deletion c.2846delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2965delG
chr17:41244702 (-) chr17:43092685 (-)
Exon 11 Insertion c.2848dupT p.R951* 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 2967dupT
chr17:41244699-41244700 (-) chr17:43092682-43092683 (-)
Exon 11 Deletion c.2844_2853del10 5 - Definitely pathogenic >0.99 Grudinina (2005) Hum Genet 41; 405
BIC nucleic acid #: 2963_2972del10
chr17:41244695-41244704 (-) chr17:43092678-43092687 (-)
Exon 11 Deletion c.2856_2857delTT 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 2975_2576delTT
chr17:41244691-41244692 (-) chr17:43092674-43092675 (-)
Exon 11 Missense c.2857T>C p.C953R 2 - Likely not pathogenic or of little clinical significance 0.010070867 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 2976T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.482525023
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.498492759
chr17:41244691:- chr17:43092674:-
Exon 11 Insertion c.2861dupT 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 2980dupT
chr17:41244686-41244687 (-) chr17:43092669-43092670 (-)
Exon 11 Deletion c.2860_2864del5 5 - Definitely pathogenic >0.99 Hirasawa (2017) ONCTARG 8, 112258
BIC nucleic acid #: 2979_2983del5
chr17:41244684-41244688 (-) chr17:43092667-43092671 (-)
Exon 11 Nonsense c.2864C>A p.S955* 5 - Definitely pathogenic >0.99 Weitzel (2005) Cancer Epidemiol Biomarkers Prev 14; 1666
BIC nucleic acid #: 2983C>A
chr17:41244684:- chr17:43092667:-
Exon 11 Nonsense c.2869C>T p.Q957* 5 - Definitely pathogenic >0.99 Borg (1999) Dis Markers 15; 79
BIC nucleic acid #: 2988C>T
chr17:41244679:- chr17:43092662:-
Exon 11 Deletion c.2866_2870del5 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 2985_2989del5
chr17:41244678-41244682 (-) chr17:43092661-43092665 (-)
Exon 11 Insertion c.2870dupA 5 - Definitely pathogenic >0.99 Manguoglu (2003) Hum Mutat 21; 444
BIC nucleic acid #: 2989dupA
chr17:41244677-41244678 (-) chr17:43092660-43092661 (-)
Exon 11 Deletion c.2875delA 5 - Definitely pathogenic >0.99 Lee (2011) J Clin Oncol 29; 4373
BIC nucleic acid #: 2994delA
chr17:41244673 (-) chr17:43092656 (-)
Exon 11 Deletion c.2872_2876del5 5 - Definitely pathogenic >0.99 Ratajska (2008) Oncol Rep 19; 263
BIC nucleic acid #: 2991_2995del5
chr17:41244672-41244676 (-) chr17:43092655-43092659 (-)
Exon 11 Deletion c.2882delA 5 - Definitely pathogenic >0.99 Manickam (2018) JAMA NET O 1,
BIC nucleic acid #: 3001delA
chr17:41244666 (-) chr17:43092649 (-)
Exon 11 Nonsense c.2884G>T p.E962* 5 - Definitely pathogenic >0.99 Solmaz (2020) CG 241, 20
BIC nucleic acid #: 3003G>T
chr17:41244664:- chr17:43092647:-
Exon 11 Missense c.2884G>A p.E962K 1 - Not pathogenic or of no clinical significance 0.000970787 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3003G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.3507
  • Sum Family: 0.108101855
  • Co-occurrence: 1.255952165
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.047614805
chr17:41244664:- chr17:43092647:-
Exon 11 Deletion c.2887delA 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 3006delA
chr17:41244661 (-) chr17:43092644 (-)
Exon 11 Nonsense c.2890G>T p.G964* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3009G>T
chr17:41244658:- chr17:43092641:-
Exon 11 Missense c.2891G>A p.G964E 3 - Uncertain 0.067181861 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3010G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 3.4159548
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 3.528995704
chr17:41244657:- chr17:43092640:-
exon 11 Deletion c.2896_2897delAT 5 - Definitely pathogenic >0.99 Wang (2015) ANN ONCO 26, 523
BIC nucleic acid #: 3015_3016delAT
chr17:41244651-41244652 (-) chr17:43092634-43092635 (-)
Exon 11 Deletion c.2898delT 5 - Definitely pathogenic >0.99 Michils (2012) J Mol Diagn 14; 623
BIC nucleic acid #: 3017delT
chr17:41244650 (-) chr17:43092633 (-)
Exon 11 Deletion c.2899delA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 3018delA
chr17:41244649 (-) chr17:43092632 (-)
Exon 11 Insertion c.2901_2902dupTC 5 - Definitely pathogenic >0.99 Blay (2013) BMC Cancer 13; 243
BIC nucleic acid #: 3020_3021dupTC
chr17:41244645-41244646 (-) chr17:43092628-43092629 (-)
Exon 11 Deletion c.2903delC 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC,
BIC nucleic acid #: 3022delC
chr17:41244645 (-) chr17:43092628 (-)
Exon 11 Deletion c.2906delA 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 3025delA
chr17:41244642 (-) chr17:43092625 (-)
Exon 11 Deletion c.2910delA 5 - Definitely pathogenic >0.99 Bergman (2005) Fam Cancer 4; 89
BIC nucleic acid #: 3029delA
chr17:41244638 (-) chr17:43092621 (-)
Exon 11 Insertion c.2910dupA 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 3029dupA
chr17:41244637-41244638 (-) chr17:43092620-43092621 (-)
Exon 11 Deletion c.2911delC 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3030delC
chr17:41244637 (-) chr17:43092620 (-)
Exon 11 Missense c.2912A>G p.H971R 1 - Not pathogenic or of no clinical significance 0.000193662 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3031A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 1.937
  • Pathology: 0.0049
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.0094913
chr17:41244636:- chr17:43092619:-
Exon 11 Nonsense c.2914G>T p.G972* 5 - Definitely pathogenic >0.99 Ahn (2007) Cancer Lett 245; 90
BIC nucleic acid #: 3033G>T
chr17:41244634:- chr17:43092617:-
Exon 11 Missense c.2917C>G p.L973V 2 - Likely not pathogenic or of little clinical significance 0.004739851 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3036C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.225883846
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.233358803
chr17:41244631:- chr17:43092614:-
exon 11 Deletion c.2917delC 5 - Definitely pathogenic >0.99 Wang (2015) ANN ONCO 26, 523
BIC nucleic acid #: 3036delC
chr17:41244631 (-) chr17:43092614 (-)
Exon 11 Deletion c.2920_2921delTT 5 - Definitely pathogenic >0.99 Garvin (1997) J Med Genet 34; 990
BIC nucleic acid #: 3039_3040elTT
chr17:41244627-41244628 (-) chr17:43092610-43092611 (-)
Exon 11 Nonsense c.2921T>A p.L974* 5 - Definitely pathogenic >0.99 Tomka (2001) Neoplasma 48; 451
BIC nucleic acid #: 3040T>A
chr17:41244627:- chr17:43092610:-
Exon 11 Insertion c.2921dupT 5 - Definitely pathogenic >0.99 Schroeder (2010) Breast Cancer Res Treat 122; 287
BIC nucleic acid #: 3040dupT
chr17:41244626-41244627 (-) chr17:43092609-43092610 (-)
Exon 11 Nonsense c.2923C>T p.Q975* 5 - Definitely pathogenic >0.99 Balz (2002) Cancer Genet Cytogenet 138; 120
BIC nucleic acid #: 3042C>T
chr17:41244625:- chr17:43092608:-
Exon 11 Insertion c.2929_2930dupCC 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3048_3049dupCC
chr17:41244617-41244618 (-) chr17:43092600-43092601 (-)
Exon 11 Insertion c.2933dupA 5 - Definitely pathogenic >0.99 Jakimovska (2018) BCRT, epub Apessos (2018) CG 220, 1
BIC nucleic acid #: 3052dupA
chr17:41244614-41244615 (-) chr17:43092597-43092598 (-)
Exon 11 Nonsense c.2934T>G p.Y978* 5 - Definitely pathogenic >0.99 Theodor (1998) Br J Cancer 77; 1880
BIC nucleic acid #: 3053T>G
chr17:41244614:- chr17:43092597:-
Exon 11 Deletion c.2934delT 5 - Definitely pathogenic >0.99 Vaziri (2000) Hum Mutat 17; 74
BIC nucleic acid #: 3053delT
chr17:41244614 (-) chr17:43092597 (-)
Exon 11 Missense c.2935C>T p.R979G 2 - Likely not pathogenic or of little clinical significance 0.004305927 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3054C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.64
  • Sum Family: 0.272347083
  • Co-occurrence: 1.215721465
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.211902845
chr17:41244613:- chr17:43092596:-
Exon 11 Deletion c.2940delA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3059delA
chr17:41244608 (-) chr17:43092591 (-)
Exon 11 Deletion c.2945delC 5 - Definitely pathogenic >0.99 Hata (2020) JHG 65, 577
BIC nucleic acid #: 3064delC
chr17:41244603 (-) chr17:43092586 (-)
Exon 11 Deletion c.2951_2952delTT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3070_3071delTT
chr17:41244596-41244597 (-) chr17:43092579-43092580 (-)
Exon 11 Deletion c.2952delT 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 3071delT
chr17:41244596 (-) chr17:43092579 (-)
Exon 11 Insertion c.2952dupT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3071dupT
chr17:41244595-41244596 (-) chr17:43092578-43092579 (-)
Exon 11 Deletion c.2955delC 5 - Definitely pathogenic >0.99 Robertson (2012) Br J Cancer 106; 1234
BIC nucleic acid #: 3074delC
chr17:41244593 (-) chr17:43092576 (-)
Exon 11 Deletion c.2957delT 5 - Definitely pathogenic >0.99 Li (2018) IJC,
BIC nucleic acid #: 3076delT
chr17:41244591 (-) chr17:43092574 (-)
Exon 11 Deletion c.2960delA 5 - Definitely pathogenic >0.99 Shi (2017) IJC 140, 2051
BIC nucleic acid #: 3079delA
chr17:41244588 (-) chr17:43092571 (-)
Exon 11 Insertion c.2960dupA 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 3079dupA
chr17:41244587-41244588 (-) chr17:43092570-43092571 (-)
Exon 11 Nonsense c.2963C>A p.S988* 5 - Definitely pathogenic >0.99 Scott (2003) Hum Genet 112; 542
BIC nucleic acid #: 3082C>A
chr17:41244585:- chr17:43092568:-
Exon 11 Missense c.2963C>T p.S988L 2 - Likely not pathogenic or of little clinical significance 0.003448496 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3082C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.59
  • Sum Family: 0.269275008
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.169561046
chr17:41244585:- chr17:43092568:-
Exon 11 Deletion c.2966_2967delTT 5 - Definitely pathogenic >0.99 Adedokun (2020) CEBP 29, 359
BIC nucleic acid #: 3085_3086delTT
chr17:41244581-41244582 (-) chr17:43092564-43092565 (-)
Exon 11 Deletion c.2967delT 5 - Definitely pathogenic >0.99 De Silva (2008) BMC Cancer 8; 214
BIC nucleic acid #: 3086delT
chr17:41244581 (-) chr17:43092564 (-)
Exon 11 Nonsense c.2971A>T p.K991* 5 - Definitely pathogenic >0.99 Rashid (2016) BMC C 16,
BIC nucleic acid #: 3090A>T
chr17:41244577:- chr17:43092560:-
Exon 11 Deletion c.2973_2979del7 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 3092_2098del7
chr17:41244569-41244575 (-) chr17:43092552-43092558 (-)
Exon 11 Deletion c.2980delT 5 - Definitely pathogenic >0.99 Konstantopoulou (2000) Hum Mutat 16; 272
BIC nucleic acid #: 3099delT
chr17:41244568 (-) chr17:43092551 (-)
Exon 11 Deletion c.2981delG 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 3100delG
chr17:41244567 (-) chr17:43092550 (-)
Exon 11 Deletion c.2981_2982delGT 5 - Definitely pathogenic >0.99 Rashid (2016) BMC C 16,
BIC nucleic acid #: 3100_3101delGT
chr17:41244566-41244567 (-) chr17:43092549-43092550 (-)
Exon 11 Deletion c.2974_2990del17 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol 121; 353
BIC nucleic acid #: 3093_3109del17
chr17:41244558-41244574 (-) chr17:43092541-43092557 (-)
Exon 11 Deletion c.2990delA 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 3109delA
chr17:41244558 (-) chr17:43092541 (-)
Exon 11 Insertion c.2989_2990dupAA 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 3108_3109dupAA
chr17:41244557-41244558 (-) chr17:43092540-43092541 (-)
Exon 11 Indel c.2995_2996delCTinsTA p.L999* 5 - Definitely pathogenic >0.99 Susswein (2016) GENET MED 18, 823
BIC nucleic acid #: 3114_3115delCTinsTA
chr17:41244552-41244553 (-) chr17:43092535-43092536 (-)
Exon 11 Missense c.2998G>A p.E1000K 2 - Likely not pathogenic or of little clinical significance 0.001011077 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3117G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.044978232
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.049592891
chr17:41244550:- chr17:43092533:-
Exon 11 Deletion c.2999delA 5 - Definitely pathogenic >0.99 Mote (2004) Genes Chromosomes Cancer 39; 236
BIC nucleic acid #: 3118delA
chr17:41244549 (-) chr17:43092532 (-)
Exon 11 Nonsense c.3001G>T p.E1001* 5 - Definitely pathogenic >0.99 Betti (2017) CANC LETT,
BIC nucleic acid #: 3120G>T
chr17:41244547:- chr17:43092530:-
Exon 11 Deletion c.3005delA 5 - Definitely pathogenic >0.99 Simard (1994) Nat Genet 8; 392
BIC nucleic acid #: 3124delA
chr17:41244543 (-) chr17:43092526 (-)
Exon 11 Deletion c.3008_3009delTT 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 3127_3128delTT
chr17:41244539-41244540 (-) chr17:43092522-43092523 (-)
Exon 11 Deletion c.3013delG 5 - Definitely pathogenic >0.99 Goelen (1999) J Med Genet 36; 304
BIC nucleic acid #: 3132delG
chr17:41244535 (-) chr17:43092518 (-)
Exon 11 Nonsense c.3020C>A p.S1007* 5 - Definitely pathogenic >0.99 Manchana (2019) WJCO 10, 358
BIC nucleic acid #: 3139C>A
chr17:41244528:- chr17:43092511:-
Exon 11 Nonsense c.3020C>G p.S1007* 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 3139C>G
chr17:41244528:- chr17:43092511:-
Exon 11 Deletion c.3018_3021del4 5 - Definitely pathogenic >0.99 Wagner (1998) Int J Cancer 77; 354
BIC nucleic acid #: 3137_3140del4
chr17:41244527-41244530 (-) chr17:43092510-43092513 (-)
Exon 11 Missense c.3022A>G p.M1008V 1 - Not pathogenic or of no clinical significance 0 Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3141A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Case Control:
  • Products of LRs: <1e-10
chr17:41244526:- chr17:43092509:-
Exon 11 Missense c.3024G>A p.M1008I 1 - Not pathogenic or of no clinical significance 0 Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3143G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 9.60E-07
  • Functional assay:
  • Case Control:
  • Products of LRs: 9.60E-07
chr17:41244524:- chr17:43092507:-
Exon 11 Nonsense c.3026C>A p.S1009* 5 - Definitely pathogenic >0.99 Bhaskaran (2019) IJC,
BIC nucleic acid #: 3145C>A
chr17:41244522:- chr17:43092505:-
Exon 11 Deletion c.3029_3030delCT 5 - Definitely pathogenic >0.99 John (2007) JAMA 298; 2869
BIC nucleic acid #: 3148_3149delCT
chr17:41244518-41244519 (-) chr17:43092501-43092502 (-)
Exon 11 Deletion c.3037_3038delGA 5 - Definitely pathogenic >0.99 Solmaz (2020) CG 241, 20
BIC nucleic acid #: 3156_3157delGA
chr17:41244510-41244511 (-) chr17:43092493-43092494 (-)
Exon 11 Missense c.3040A>T p.M1014L 2 - Likely not pathogenic or of little clinical significance 0.001349158 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3159A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.064077593
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.066198051
chr17:41244508:- chr17:43092491:-
Exon 11 Insertion c.3044dupG 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3163dupG
chr17:41244503-41244504 (-) chr17:43092486-43092487 (-)
Exon 11 Nonsense c.3049G>T p.E1017* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 3168G>T
chr17:41244499:- chr17:43092482:-
Exon 11 Insertion c.3048_3052dup5 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 3167_3171dup5
chr17:41244495-41244496 (-) chr17:43092478-43092479 (-)
Exon 11 Insertion c.3061dupA 5 - Definitely pathogenic >0.99 Cao (2014) APJCP 15, 4513
BIC nucleic acid #: 3180dupA
chr17:41244486-41244487 (-) chr17:43092469-43092470 (-)
Exon 11 Missense c.3080G>A p.S1027N 3 - Uncertain 0.051954465 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3199G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 2.599266094
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 2.685281104
chr17:41244468:- chr17:43092451:-
Exon 11 Missense c.3082C>T p.R1028C 1 - Not pathogenic or of no clinical significance 1.86E-05 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3201C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.1313159
  • Pathology: 0.056010528
  • Sum Family: 0.081048157
  • Co-occurrence: 1.526888007
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.000910201
chr17:41244466:- chr17:43092449:-
Exon 11 Missense c.3083G>A p.R1028H 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3202G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.0589
  • Co-occurrence: 0.00832
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00049
chr17:41244465:- chr17:43092448:-
Exon 11 Deletion c.3084_3094del11 5 - Definitely pathogenic >0.99 Moller (2007) Eur J Cancer 43; 1713
BIC nucleic acid #: 3203_3213del11
chr17:41244454-41244464 (-) chr17:43092437-43092447 (-)
Exon 11 Deletion c.3101delA 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC,
BIC nucleic acid #: 3220delA
chr17:41244447 (-) chr17:43092430 (-)
Exon 11 Insertion c.3101dupA 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC,
BIC nucleic acid #: 3220dupA
chr17:41244446-41244447 (-) chr17:43092429-43092430 (-)
Exon 11 Deletion c.3108delT 5 - Definitely pathogenic >0.99 Pal (2001) Fam Cancer 1; 17
BIC nucleic acid #: 3227delT
chr17:41244440 (-) chr17:43092423 (-)
Exon 11 Deletion c.3106_3109del4 5 - Definitely pathogenic >0.99 Carter (2018) GYN ONC 151, 481
BIC nucleic acid #: 3225_3228del4
chr17:41244439-41244442 (-) chr17:43092422-43092425 (-)
Exon 11 Insertion c.3108dupT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3227dupT
chr17:41244439-41244440 (-) chr17:43092422-43092423 (-)
Exon 11 Deletion c.3107_3112del6 p.F1036* 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 3226_3231del6
chr17:41244436-41244441 (-) chr17:43092419-43092424 (-)
Exon 11 Nonsense c.3112G>T p.E1038* 5 - Definitely pathogenic >0.99 Schulz (2012) J Med Genet 49; 422
BIC nucleic acid #: 3231G>T
chr17:41244436:- chr17:43092419:-
Exon 11 Missense c.3113A>G p.E1038G 1 - Not pathogenic or of no clinical significance 0 Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3232A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Case Control:
  • Products of LRs: <1e-10
chr17:41244435:- chr17:43092418:-
Exon 11 Deletion c.3114delA 5 - Definitely pathogenic >0.99 Jian (2017) HCCP 15, 19
BIC nucleic acid #: 3233delA
chr17:41244434 (-) chr17:43092417 (-)
Exon 11 Deletion c.3111_3118del8 5 - Definitely pathogenic >0.99 Lerner-Ellis (2020) JCRCO,
BIC nucleic acid #: 3230_3237del8
chr17:41244430-41244437 (-) chr17:43092413-43092420 (-)
Exon 11 Missense c.3119G>A p.S1040N 1 - Not pathogenic or of no clinical significance 0 Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3238G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Case Control:
  • Products of LRs: <1e-10
chr17:41244429:- chr17:43092412:-
Exon 11 Nonsense c.3122C>G p.S1041* 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110: 99
BIC nucleic acid #: 3241C>G
chr17:41244426:- chr17:43092409:-
Exon 11 Missense c.3130A>G p.I1044V 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3249A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.0288
  • Co-occurrence: 0.00398
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00011
chr17:41244418:- chr17:43092401:-
Exon 11 Deletion c.3132delT 5 - Definitely pathogenic >0.99 Apessos (2018) CG 220, 1
BIC nucleic acid #: 3251delT
chr17:41244416 (-) chr17:43092399 (-)
Exon 11 Deletion c.3125_3134del10 5 - Definitely pathogenic >0.99 Vaca-Paniagua (2012) PLoS One 7; e37432
BIC nucleic acid #: 3244_3253del10
chr17:41244414-41244423 (-) chr17:43092397-43092406 (-)
Exon 11 Deletion c.3129_3138del10 5 - Definitely pathogenic >0.99 Mannan (2016) JHG 61, 515
BIC nucleic acid #: 3248_3257del10
chr17:41244410-41244419 (-) chr17:43092393-43092402 (-)
Exon 11 Missense c.3143G>T p.G1048V 1 - Not pathogenic or of no clinical significance 0.000313642 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3262G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.013496151
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.01537326
chr17:41244405:- chr17:43092388:-
Exon 11 Missense c.3143G>A p.G1048D 2 - Likely not pathogenic or of little clinical significance 0.009309408 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3262G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.404225807
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.460447473
chr17:41244405:- chr17:43092388:-
Exon 11 Deletion c.3143delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3262delG
chr17:41244405 (-) chr17:43092388 (-)
Exon 11 Deletion c.3145delT 5 - Definitely pathogenic >0.99 Bonadona (2005) Genes Chromosomes Cancer 43; 404
BIC nucleic acid #: 3264delT
chr17:41244403 (-) chr17:43092386 (-)
Exon 11 Deletion c.3155delA 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 3274delA
chr17:41244393 (-) chr17:43092376 (-)
Exon 11 Deletion c.3157delG 5 - Definitely pathogenic >0.99 Lim (2009) J Cancer Res Clin Oncol 135; 1593
BIC nucleic acid #: 3276delG
chr17:41244391 (-) chr17:43092374 (-)
Exon 11 Insertion c.3157dupG 5 - Definitely pathogenic >0.99 Konstantopoulou (2000) Hum Mutat 16; 272
BIC nucleic acid #: 3276dupG
chr17:41244390-41244391 (-) chr17:43092373-43092374 (-)
Exon 11 Insertion c.3158_3159insG 5 - Definitely pathogenic >0.99 Stavropoulou (2013) PLoS One 8; e58182
BIC nucleic acid #: 3277_3278insG
chr17:41244389-41244390 (-) chr17:43092372-43092373 (-)
Exon 11 Deletion c.3164delG 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 3283delG
chr17:41244384 (-) chr17:43092367 (-)
Exon 11 Deletion c.3168delC 5 - Definitely pathogenic >0.99 Gayther (1999) Am J Hum Genet 65; 1021
BIC nucleic acid #: 3287delC
chr17:41244380 (-) chr17:43092363 (-)
Exon 11 Deletion c.3169_3172del4 5 - Definitely pathogenic >0.99 Ahmad (2012) Clin Genet 82; 594
BIC nucleic acid #: 3288_3291del4
chr17:41244376-41244379 (-) chr17:43092359-43092362 (-)
Exon 11 Insertion c.3171dupT 5 - Definitely pathogenic >0.99 Teixeira (2018) EJHG 26, 848
BIC nucleic acid #: 3290dupT
chr17:41244376-41244377 (-) chr17:43092359-43092360 (-)
Exon 11 Deletion c.3174_3177del4 5 - Definitely pathogenic >0.99 Minucci (2015) ERMD 15, 1383
BIC nucleic acid #: 3293_3296del4
chr17:41244371-41244374 (-) chr17:43092354-43092357 (-)
Exon 11 Nonsense c.3178G>T p.E1060* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 3297G>T
chr17:41244370:- chr17:43092353:-
Exon 11 Deletion c.3181delA 5 - Definitely pathogenic >0.99 Patmasiriwat (2002) Hum Mutat 20; 230
BIC nucleic acid #: 3300delA
chr17:41244367 (-) chr17:43092350 (-)
Exon 11 Deletion c.3183delA 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3302delA
chr17:41244365 (-) chr17:43092348 (-)
Exon 11 Indel c.3188_3189delCCinsG 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 3307_3308delCCinsG
chr17:41244359-41244360 (-) chr17:43092342-43092343 (-)
Exon 11 Insertion c.3193dupG 5 - Definitely pathogenic >0.99 Werness (2000) Int J Gynecol Pathol 19; 390
BIC nucleic acid #: 3312dupG
chr17:41244354-41244355 (-) chr17:43092337-43092338 (-)
Exon 11 Nonsense c.3196G>T p.E1066* 5 - Definitely pathogenic >0.99 Rebbeck (2016) BCR 18,
BIC nucleic acid #: 3315G>T
chr17:41244352:- chr17:43092335:-
Exon 11 Nonsense c.3205C>T p.Q1069* 5 - Definitely pathogenic >0.99 Gabaldo Barrios (2017) FAM CAN,
BIC nucleic acid #: 3324C>T
chr17:41244343:- chr17:43092326:-
Exon 11 Missense c.3211G>A p.E1071K 2 - Likely not pathogenic or of little clinical significance 0.004486066 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3330G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.213734884
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.220807807
chr17:41244337:- chr17:43092320:-
Exon 11 Insertion c.3211dupG 5 - Definitely pathogenic >0.99 Shen (2000) J Natl Med Assoc 92; 29
BIC nucleic acid #: 3330dupG
chr17:41244336-41244337 (-) chr17:43092319-43092320 (-)
Exon 11 Deletion c.3214delC 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 3333delC
chr17:41244334 (-) chr17:43092317 (-)
Exon 11 Missense c.3220A>G p.R1074G 2 - Likely not pathogenic or of little clinical significance 0.005851852 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3339A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.279189646
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.2884286
chr17:41244328:- chr17:43092311:-
Exon 11 Indel c.3220_3226del7insTT 5 - Definitely pathogenic >0.99 Sun (2014) IJCEP 7, 6262
BIC nucleic acid #: 3339_3345del7insTT
chr17:41244322-41244328 (-) chr17:43092305-43092311 (-)
Exon 11 Deletion c.3228_3229delAG 5 - Definitely pathogenic >0.99 Malone (1998) JAMA 279; 922
BIC nucleic acid #: 3347_3348delAG
chr17:41244319-41244320 (-) chr17:43092302-43092303 (-)
Exon 11 Nonsense c.3239T>A p.L1080* 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 3358T>A
chr17:41244309:- chr17:43092292:-
Exon 11 Insertion c.3254_3255dupGA 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 3373_3374dupGA
chr17:41244292-41244293 (-) chr17:43092275-43092276 (-)
Exon 11 Insertion c.3255dupA 5 - Definitely pathogenic >0.99 Santarosa (1998) Int J Cancer 78; 581
BIC nucleic acid #: 3374dupA
chr17:41244292-41244293 (-) chr17:43092275-43092276 (-)
Exon 11 Nonsense c.3257T>A p.L1086* 5 - Definitely pathogenic >0.99 Peixoto (2014) CLIN GENET epub, epub
BIC nucleic acid #: 3376T>A
chr17:41244291:- chr17:43092274:-
Exon 11 Nonsense c.3257T>G p.L1086* 5 - Definitely pathogenic >0.99 Wagner (1998) Int J Cancer 77; 354
BIC nucleic acid #: 3376T>G
chr17:41244291:- chr17:43092274:-
Exon 11 Insertion c.3257dupT 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 3376dupT
chr17:41244290-41244291 (-) chr17:43092273-43092274 (-)
Exon 11 Deletion c.3258delA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 3377delA
chr17:41244290 (-) chr17:43092273 (-)
Exon 11 Deletion c.3262delG 5 - Definitely pathogenic >0.99 Sng (2000) Br J Cancer 82; 538
BIC nucleic acid #: 3381delG
chr17:41244286 (-) chr17:43092269 (-)
Exon 11 Nonsense c.3266T>A p.L1089* 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 3385T>A
chr17:41244282:- chr17:43092265:-
Exon 11 Deletion c.3266delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3385delT
chr17:41244282 (-) chr17:43092265 (-)
Exon 11 Missense c.3267G>T p.L1089F 2 - Likely not pathogenic or of little clinical significance 0.005645213 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3386G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.269275008
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.278185866
chr17:41244281:- chr17:43092264:-
Exon 11 Nonsense c.3268C>T p.Q1090* 5 - Definitely pathogenic >0.99 Gao (2000) Hum Genet 107; 192
BIC nucleic acid #: 3387C>T
chr17:41244280:- chr17:43092263:-
Exon 11 Deletion c.3270_3273del4 5 - Definitely pathogenic >0.99 Palmero (2018) SCI REP 8,
BIC nucleic acid #: 3389_3392del4
chr17:41244275-41244278 (-) chr17:43092258-43092261 (-)
Exon 11 Deletion c.3277delG 5 - Definitely pathogenic >0.99 Ryu (2019) BCRT 173, 385
BIC nucleic acid #: 3396delG
chr17:41244271 (-) chr17:43092254 (-)
Exon 11 Deletion c.3279delC 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3398delC
chr17:41244269 (-) chr17:43092252 (-)
Exon 11 Missense c.3280T>G p.Y1094D 2 - Likely not pathogenic or of little clinical significance 0.005752409 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3399T>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.274417782
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.283498825
chr17:41244268:- chr17:43092251:-
Exon 11 Deletion c.3285delA 5 - Definitely pathogenic >0.99 Papi (2009) Breast Cancer Res Treat 117; 497
BIC nucleic acid #: 3404delA
chr17:41244263 (-) chr17:43092246 (-)
Exon 11 Nonsense c.3286C>T p.Q1096* 5 - Definitely pathogenic >0.99 Majdak (2005) Eur J Cancer 41; 143
BIC nucleic acid #: 3405C>T
chr17:41244262:- chr17:43092245:-
Exon 11 Deletion c.3286delC 5 - Definitely pathogenic >0.99 Naseem (2006) Clin Genet 70; 388
BIC nucleic acid #: 3405delC
chr17:41244262 (-) chr17:43092245 (-)
Exon 11 Insertion c.3286dupC 5 - Definitely pathogenic >0.99 Li (2018) GYN ONC,
BIC nucleic acid #: 3405dupC
chr17:41244261-41244262 (-) chr17:43092244-43092245 (-)
Exon 11 Deletion c.3288_3289delAA 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 3407_3408delAA
chr17:41244259-41244260 (-) chr17:43092242-43092243 (-)
Exon 11 Deletion c.3289delA 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 3408delA
chr17:41244259 (-) chr17:43092242 (-)
Exon 11 Deletion c.3292_3293delCT 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 3411_3412delCT
chr17:41244255-41244256 (-) chr17:43092238-43092239 (-)
Exon 11 Deletion c.3294delT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 3413delT
chr17:41244254 (-) chr17:43092237 (-)
Exon 11 Missense c.3296C>T p.P1099L 1 - Not pathogenic or of no clinical significance 0 Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3415C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.0022
  • Pathology: 0.0205
  • Sum Family:
  • Co-occurrence: 0.0000336
  • Functional assay:
  • Case Control:
  • Products of LRs: 1.52E-09
chr17:41244252:- chr17:43092235:-
Exon 11 Deletion c.3296delC 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 3415delC
chr17:41244252 (-) chr17:43092235 (-)
Exon 11 Missense c.3302G>A p.S1101N 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3421G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 8.71E-08
  • Co-occurrence: 3.55
  • Functional assay:
  • Case Control:
  • Products of LRs: 3.09E-07
chr17:41244246:- chr17:43092229:-
Exon 11 Missense c.3305A>G p.N1102S 2 - Likely not pathogenic or of little clinical significance 0.00410659 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3424A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.748288
  • Sum Family: 0.252998366
  • Co-occurrence: 1.067279157
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.202052638
chr17:41244243:- chr17:43092226:-
Exon 11 Insertion c.3307dupT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3426dupT
chr17:41244240-41244241 (-) chr17:43092223-43092224 (-)
Exon 11 Insertion c.3309dupT 5 - Definitely pathogenic >0.99 Cardoso (2018) HUM GENOM 12, 39
BIC nucleic acid #: 3428dupT
chr17:41244238-41244239 (-) chr17:43092221-43092222 (-)
Exon 11 Deletion c.3314delA 5 - Definitely pathogenic >0.99 Bergman (2005) Fam Cancer 4; 89
BIC nucleic acid #: 3433delA
chr17:41244234 (-) chr17:43092217 (-)
Exon 11 Nonsense c.3319G>T p.E1107* 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 3438G>T
chr17:41244229:- chr17:43092212:-
Exon 11 Deletion c.3323_3326del4 5 - Definitely pathogenic >0.99 Duarte (2002) Rev Clin Esp 202; 259
BIC nucleic acid #: 3442_3445del4
chr17:41244222-41244225 (-) chr17:43092205-43092208 (-)
Exon 11 Missense c.3327A>C p.K1109N 1 - Not pathogenic or of no clinical significance 0.00003 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3446A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.309
  • Co-occurrence: 0.00479
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00148
chr17:41244221:- chr17:43092204:-
Exon 11 Deletion c.3326_3329del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3445_3448del4
chr17:41244219-41244222 (-) chr17:43092202-43092205 (-)
Exon 11 Deletion c.3328_3329delAA 5 - Definitely pathogenic >0.99 Shi (2017) IJC 140, 2051
BIC nucleic acid #: 3447_3448delAA
chr17:41244219-41244220 (-) chr17:43092202-43092203 (-)
Exon 11 Deletion c.3329delA 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 3448delA
chr17:41244219 (-) chr17:43092202 (-)
Exon 11 Deletion c.3327_3330del4 5 - Definitely pathogenic >0.99 Schroeder (2015) BCRT 152, 129
BIC nucleic acid #: 3446_3449del4
chr17:41244218-41244221 (-) chr17:43092201-43092204 (-)
Exon 11 Deletion c.3329_3330delAG 5 - Definitely pathogenic >0.99 Salgado (2005) Oncol Rep 14; 85
BIC nucleic acid #: 3448_3449delAG
chr17:41244218-41244219 (-) chr17:43092201-43092202 (-)
Exon 11 Insertion c.3329dupA 5 - Definitely pathogenic >0.99 Garvin (1996) J Med Genet 33; 721
BIC nucleic acid #: 3448dupA
chr17:41244218-41244219 (-) chr17:43092201-43092202 (-)
Exon 11 Insertion c.3330_3331insA 5 - Definitely pathogenic >0.99 Bhaskaran (2019) IJC,
BIC nucleic acid #: 3449_3450insA
chr17:41244217-41244218 (-) chr17:43092200-43092201 (-)
Exon 11 Deletion c.3331delC 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3450delC
chr17:41244217 (-) chr17:43092200 (-)
Exon 11 Deletion c.3333delA 5 - Definitely pathogenic >0.99 Elit (2001) Int J Gynecol Cancer 11; 241
BIC nucleic acid #: 3452delA
chr17:41244215 (-) chr17:43092198 (-)
Exon 11 Deletion c.3331_3334del4 5 - Definitely pathogenic >0.99 Durocher (1996) J Med Genet 33; 814
BIC nucleic acid #: 3450_3453del4
chr17:41244214-41244217 (-) chr17:43092197-43092200 (-)
Exon 11 Insertion c.3333dupA 5 - Definitely pathogenic >0.99 Gao (2020) HUM MUT 41, 696
BIC nucleic acid #: 3452dupA
chr17:41244214-41244215 (-) chr17:43092197-43092198 (-)
Exon 11 Deletion c.3333_3336del4 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 3452_3455del4
chr17:41244212-41244215 (-) chr17:43092195-43092198 (-)
Exon 11 Nonsense c.3339T>G p.Y1113* 5 - Definitely pathogenic >0.99 Scott (2003) Hum Genet 112; 542
BIC nucleic acid #: 3458T>G
chr17:41244209:- chr17:43092192:-
Exon 11 Nonsense c.3340G>T p.E1114* 5 - Definitely pathogenic >0.99 Kang (2002) Hum Mutat 20; 235
BIC nucleic acid #: 3459G>T
chr17:41244208:- chr17:43092191:-
Exon 11 Deletion c.3339_3341delTGA p.Y1113* 5 - Definitely pathogenic >0.99 Rashid (2016) BMC C 16,
BIC nucleic acid #: 3458_3460delTGA
chr17:41244207-41244209 (-) chr17:43092190-43092192 (-)
Exon 11 Deletion c.3343delG 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 3462delG
chr17:41244205 (-) chr17:43092188 (-)
Exon 11 Deletion c.3342_3345del4 5 - Definitely pathogenic >0.99 Kwong (2009) Breast Cancer Res Treat 117; 683
BIC nucleic acid #: 3461_3464del4
chr17:41244203-41244206 (-) chr17:43092186-43092189 (-)
Exon 11 Missense c.3347T>G p.V1116G 2 - Likely not pathogenic or of little clinical significance 0.008097166 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3466T>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.4
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.4
chr17:41244201:- chr17:43092184:-
Exon 11 Insertion c.3351dupT 5 - Definitely pathogenic >0.99 Vietri (2012) Clin Chem Lab Med 50; 2171
BIC nucleic acid #: 3470dupT
chr17:41244196-41244197 (-) chr17:43092179-43092180 (-)
Exon 11 Nonsense c.3352C>T p.Q1118* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3471C>T
chr17:41244196:- chr17:43092179:-
Exon 11 Insertion c.3347_3353dup7 5 - Definitely pathogenic >0.99 Shi (2017) IJC 140, 2051
BIC nucleic acid #: 3466_3472dup7
chr17:41244194-41244195 (-) chr17:43092177-43092178 (-)
Exon 11 Deletion c.3354_3355delGA 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 3473_3474delGA
chr17:41244193-41244194 (-) chr17:43092176-43092177 (-)
Exon 11 Deletion c.3357delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3476delT
chr17:41244191 (-) chr17:43092174 (-)
Exon 11 Deletion c.3355_3359del5 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3474_3478del5
chr17:41244189-41244193 (-) chr17:43092172-43092176 (-)
Exon 11 Deletion c.3358_3359delGT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3477_3478delGT
chr17:41244189-41244190 (-) chr17:43092172-43092173 (-)
Exon 11 Deletion c.3359_3360delTT 5 - Definitely pathogenic >0.99 Miramar (2008) Breast Cancer Res Treat 112; 353
BIC nucleic acid #: 3478_3479delTT
chr17:41244188-41244189 (-) chr17:43092171-43092172 (-)
Exon 11 Missense c.3362A>G p.N1121S 2 - Likely not pathogenic or of little clinical significance 0.001856535 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3481A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.09728
  • Sum Family: 0.822482613
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.091139438
chr17:41244186:- chr17:43092169:-
Exon 11 Deletion c.3359_3363del5 5 - Definitely pathogenic >0.99 Li (2006) Int J Gynecol Cancer 16S1; 172
BIC nucleic acid #: 3478_3482del5
chr17:41244185-41244189 (-) chr17:43092168-43092172 (-)
Exon 11 Deletion c.3365_3366delCA 5 - Definitely pathogenic >0.99 Donenberg (2016) BCRT 159, 131
BIC nucleic acid #: 3484_3485delCA
chr17:41244182-41244183 (-) chr17:43092165-43092166 (-)
Exon 11 Deletion c.3375_3376delTC 5 - Definitely pathogenic >0.99 Kashima (2000) Jpn J Cancer Res 91; 399
BIC nucleic acid #: 3494_3495delTC
chr17:41244172-41244173 (-) chr17:43092155-43092156 (-)
Exon 11 Deletion c.3377delC 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 3496delC
chr17:41244171 (-) chr17:43092154 (-)
Exon 11 Nonsense c.3381T>A p.Y1127* 5 - Definitely pathogenic >0.99 Wong (2016) NPJ GM 1, 15003
BIC nucleic acid #: 3500T>A
chr17:41244167:- chr17:43092150:-
Exon 11 Nonsense c.3381T>G p.Y1127* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3500T>G
chr17:41244167:- chr17:43092150:-
Exon 11 Nonsense c.3389C>G p.S1130* 5 - Definitely pathogenic >0.99 Plummer (1995) Hum Mol Genet 4; 1989
BIC nucleic acid #: 3508C>G
chr17:41244159:- chr17:43092142:-
Exon 11 Deletion c.3390delA 5 - Definitely pathogenic >0.99 Litton (2012) Cancer 118; 321
BIC nucleic acid #: 3509delA
chr17:41244158 (-) chr17:43092141 (-)
Exon 11 Deletion c.3397_3398delTT 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 3516_3517delTT
chr17:41244150-41244151 (-) chr17:43092133-43092134 (-)
Exon 11 Nonsense c.3398T>G p.L1133* 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 3517T>G
chr17:41244150:- chr17:43092133:-
Exon 11 Nonsense c.3400G>T p.E1134* 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 3519G>T
chr17:41244148:- chr17:43092131:-
Exon 11 Nonsense c.3403C>T p.Q1135* 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 3522C>T
chr17:41244145:- chr17:43092128:-
Exon 11 Deletion c.3407delC 5 - Definitely pathogenic >0.99 Chen (2020) BCRT 180, 759
BIC nucleic acid #: 3526delC
chr17:41244141 (-) chr17:43092124 (-)
Exon 11 Deletion c.3413delG 5 - Definitely pathogenic >0.99 Amikura (2006) Gynecol Oncol 100; 365
BIC nucleic acid #: 3532delG
chr17:41244135 (-) chr17:43092118 (-)
Exon 11 Missense c.3416G>T p.S1139I 1 - Not pathogenic or of no clinical significance 1.24E-05 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3535G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.0623
  • Pathology: 0.196
  • Sum Family: 0.043757102
  • Co-occurrence: 1.1390848
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.000608624
chr17:41244132:- chr17:43092115:-
Exon 11 Deletion c.3416delG 5 - Definitely pathogenic >0.99 Robertson (2012) Br J Cancer 106; 1234
BIC nucleic acid #: 3535delG
chr17:41244132 (-) chr17:43092115 (-)
Exon 11 Deletion c.3417delT 5 - Definitely pathogenic >0.99 Salgado (2009) Breast Cancer Res Treat 113; 71
BIC nucleic acid #: 3536delT
chr17:41244131 (-) chr17:43092114 (-)
Exon 11 Missense c.3418A>G p.S1140G 1 - Not pathogenic or of no clinical significance 0 Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3537A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 2.90E-04
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00029
chr17:41244130:- chr17:43092113:-
Exon 11 Insertion c.3418_3419ins8 5 - Definitely pathogenic >0.99 Li (2017) JCRCO,
BIC nucleic acid #: 3537_3538ins8
chr17:41244129-41244130 (-) chr17:43092112-43092113 (-)
Exon 11 Insertion c.3420dupT 5 - Definitely pathogenic >0.99 Fu (2007) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24; 341
BIC nucleic acid #: 3539dupT
chr17:41244127-41244128 (-) chr17:43092110-43092111 (-)
Exon 11 Insertion c.3423dupT 5 - Definitely pathogenic >0.99 Shi (2017) IJC 140, 2051
BIC nucleic acid #: 3542dupT
chr17:41244124-41244125 (-) chr17:43092107-43092108 (-)
Exon 11 Missense c.3424G>C p.A1142P 2 - Likely not pathogenic or of little clinical significance 0.00136681 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3543G>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.060824874
  • Co-occurrence: 1.102597599
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.06706536
chr17:41244124:- chr17:43092107:-
Exon 11 Deletion c.3424delG 5 - Definitely pathogenic >0.99 Chan (2012) J Mol Diagn 14; 602
BIC nucleic acid #: 3543delG
chr17:41244124 (-) chr17:43092107 (-)
Exon 11 Missense c.3425C>T p.A1142V 2 - Likely not pathogenic or of little clinical significance 0.002471567 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3544C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.117517927
  • Co-occurrence: 1.033092037
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.121406835
chr17:41244123:- chr17:43092106:-
Exon 11 Indel c.3428delCinsTA 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 3947delCinsTA
chr17:41244120 (-) chr17:43092103 (-)
Exon 11 Nonsense c.3430C>T p.Q1144* 5 - Definitely pathogenic >0.99 Schorge (2001) Gynecol Oncol 83; 383
BIC nucleic acid #: 3549C>T
chr17:41244118:- chr17:43092101:-
Exon 11 Deletion c.3435_3436delTT 5 - Definitely pathogenic >0.99 Zeng (2020) BCRT 181, 465
BIC nucleic acid #: 3554_3555delTT
chr17:41244112-41244113 (-) chr17:43092095-43092096 (-)
Exon 11 Deletion c.3436_3439del4 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 3555_3558del4
chr17:41244109-41244112 (-) chr17:43092092-43092095 (-)
Exon 11 Deletion c.3439delT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 3558delT
chr17:41244109 (-) chr17:43092092 (-)
Exon 11 Nonsense c.3442G>T p.E1148* 5 - Definitely pathogenic >0.99 Choi (2018) IJGC 28, 308
BIC nucleic acid #: 3561G>T
chr17:41244106:- chr17:43092089:-
Exon 11 Deletion c.3442delG 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 3561delG
chr17:41244106 (-) chr17:43092089 (-)
Exon 11 Missense c.3448C>T p.P1150S 2 - Likely not pathogenic or of little clinical significance 0.008097166 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3567C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.4
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.4
chr17:41244100:- chr17:43092083:-
Exon 11 Deletion c.3450delT 5 - Definitely pathogenic >0.99 Zhang (2012) Breast Cancer Res Treat 132; 421
BIC nucleic acid #: 3569delT
chr17:41244098 (-) chr17:43092081 (-)
Exon 11 Insertion c.3450dupT p.D1151* 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 3569dupT
chr17:41244097-41244098 (-) chr17:43092080-43092081 (-)
Exon 11 Deletion c.3453delT 5 - Definitely pathogenic >0.99 Jouali (2016) ONC LETT 12, 1192
BIC nucleic acid #: 3572delT
chr17:41244095 (-) chr17:43092078 (-)
Exon 11 Missense c.3454G>A p.D1152N 2 - Likely not pathogenic or of little clinical significance 0.001371109 Parsons et al., Hum Mutat, 40:1557-1578, 2019
BIC nucleic acid #: 3573G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing:
  • Other: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 1.228
  • Pathology: 0.572908
  • Sum Family: 0.076139064
  • Co-occurrence: 1.255952165
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.067276577
chr17:41244094:- chr17:43092077:-
Exon 11 Deletion c.3458delT 5 - Definitely pathogenic >0.99 Shi (2017) IJC 140, 2051
BIC nucleic acid #: 3577delT
chr17:41244090 (-) chr17:43092073 (-)
Exon 11 Missense c.3463G>C p.D1155H 1 - Not pathogenic or of no clinical significance 0 Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3582G>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Other: 0
  • Combined: 0.02
Observational data
  • Segregation: 0.0025
  • Pathology: 0.139
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Case Control:
  • Products of LRs: 0.00035
chr17:41244085:- chr17:43092068:-
Exon 11 Deletion c.3468delT 5 - Definitely pathogenic >0.99