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 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 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 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 4 - Likely pathogenic 0.984 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 172T>C
PRIOR
  • Position & Align-GVGD: 0.66
  • Splicing: 0.01
  • Combined: 0.66
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 25.7
  • Co-occurrence: 1.23
  • Functional assay:
  • Products of LRs:
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 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
  • Combined: 0.81
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 38.88
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
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 #: 127+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>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
BIC nucleic acid #: 200-2A>G
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
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 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
  • Combined: 0.81
Observational data
  • Segregation:
  • Pathology: 8.73
  • Sum Family: 72.68
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
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
  • Combined: 0.81
Observational data
  • Segregation:
  • Pathology: 3.586
  • Sum Family: 9.65
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
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 >0.99 Whiley PJ, et al., PLoS One, 9:e86836, 2014 Tavtigian SV et al., Hum Mutat, 29(11):1342-1354, 2008
BIC nucleic acid #: 241A>G
PRIOR
  • Position & Align-GVGD: 0.29
  • Splicing: 0.02
  • Combined: 0.29
Observational data
  • Segregation: 159.17
  • Pathology: 2.95
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • 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
  • Combined: 0.81
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 149.6
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
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
  • Combined: 0.81
Observational data
  • Segregation:
  • Pathology: 2.95
  • Sum Family: 28.25
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
chr17:41267746:- chr17:43115729:-
Exon 3 Splice Site c.132C>T 5 - Definitely pathogenic >0.99 Steffensen (2014) Eur J Hum Genet 22, 1362
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: 0.01
  • Combined: 0.03
Observational data
  • Segregation:
  • Pathology: 0.0193
  • Sum Family: 1.344
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
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 (-)
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
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
BIC nucleic acid #: 253+2T>G
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
BIC nucleic acid #: 254-2A>G
chr17:41258552:- chr17:43106535:-
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
BIC nucleic acid #: 254-1G>T
chr17:41258551:- chr17:43106534:-
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 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 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
  • Combined: 0.81
Observational data
  • Segregation:
  • Pathology: 8.703
  • Sum Family: 147.7
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
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.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 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
  • Combined: 0.03
Observational data
  • Segregation: 0.0832
  • Pathology:
  • Sum Family: 0.00059
  • Co-occurrence: 1.91
  • Functional assay:
  • Products of LRs:
chr17:41258486:- chr17:43106469:-
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 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
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
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 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.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 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 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.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 p.Thr97Alafs*2 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:
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.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
  • Combined: 0.02
Observational data
  • Segregation: 1.32
  • Pathology:
  • Sum Family: 0.148
  • Co-occurrence: 0.00003
  • Functional assay:
  • Products of LRs:
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.321delT 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 440delT
chr17:41256259 (-) chr17:43104242 (-)
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.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 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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00617
  • Co-occurrence: 1.1
  • Functional assay:
  • Products of LRs:
chr17:41256210:- chr17:43104193:-
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 0.1645 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 499G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 9.65
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
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 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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.00479
  • Co-occurrence: 1.698
  • Functional assay:
  • Products of LRs:
chr17:41256184:- chr17:43104167:-
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 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 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
  • Combined: 0.02
Observational data
  • Segregation: 1.7
  • Pathology: 0.0069
  • Sum Family:
  • Co-occurrence: 0.0043
  • Functional assay:
  • Products of LRs:
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
  • Combined: 0.02
Observational data
  • Segregation: 0.0813
  • Pathology:
  • Sum Family: 0.00501
  • Co-occurrence: 1.32
  • Functional assay:
  • Products of LRs:
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 (-)
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:-
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 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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.537
  • Co-occurrence: 0.00355
  • Functional assay:
  • Products of LRs:
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 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 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 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 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 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.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
  • Combined: 0.02
Observational data
  • Segregation: 0.0007
  • Pathology: 0.143
  • Sum Family:
  • Co-occurrence: 8.49E-07
  • Functional assay:
  • Products of LRs:
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 (-)
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
  • Combined: 0.13
Observational data
  • Segregation: 0.00501
  • Pathology:
  • Sum Family: 0.00027
  • Co-occurrence: 0.00029
  • Functional assay:
  • Products of LRs:
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
  • Combined: 0.02
Observational data
  • Segregation: 0.0955
  • Pathology:
  • Sum Family: 0.0138
  • Co-occurrence: 0.00589
  • Functional assay:
  • Products of LRs:
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 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
BIC nucleic acid #: 790-2A>C
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.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 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.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.704delA 5 - Definitely pathogenic >0.99 Gonzalez-Rivera (2016) BCRT 156, 507
BIC nucleic acid #: 823delA
chr17:41246844 (-) chr17:43094827 (-)
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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 2.60E-05
  • Functional assay:
  • Products of LRs:
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 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.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 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 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 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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 1.15
  • Co-occurrence: 0.00324
  • Functional assay:
  • Products of LRs:
chr17:41246709:- chr17:43094692:-
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.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 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.883delG 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 1002delG
chr17:41246665 (-) chr17:43094648 (-)
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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 1
  • Co-occurrence: 0.00316
  • Functional assay:
  • Products of LRs:
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 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.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 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 Deletion c.953delA 5 - Definitely pathogenic >0.99 Gabaldo Barrios (2017) FAM CAN ,
BIC nucleic acid #: 1072delA
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.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 Deletion c.964delG 5 - Definitely pathogenic >0.99 Smith (2001) Gynecol Oncol 83; 586
BIC nucleic acid #: 1083delG
chr17:41246584 (-) chr17:43094567 (-)
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 Missense c.1001C>A p.P334H 2 - Likely not pathogenic or of little clinical significance 0.0266 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1120C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.139
  • Sum Family: 9.65
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
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
  • Combined: 0.02
Observational data
  • Segregation: 0.107
  • Pathology:
  • Sum Family: 8.91
  • Co-occurrence: 0.00001
  • Functional assay:
  • Products of LRs:
chr17:41246547:- chr17:43094530:-
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 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 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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Products of LRs:
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 Deletion c.1072delC 5 - Definitely pathogenic >0.99 Claes (1999) Hum Mutat 13; 256
BIC nucleic acid #: 1191delC
chr17:41246476 (-) chr17:43094459 (-)
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 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 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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00017
  • Co-occurrence: 1.66
  • Functional assay:
  • Products of LRs:
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 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 Deletion c.1127delA 5 - Definitely pathogenic >0.99 Arnold (1999) Hum Mutat 14; 333
BIC nucleic acid #: 1246delA
chr17:41246421 (-) chr17:43094404 (-)
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.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 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 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 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.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 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 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 Missense c.1258G>T p.D420Y 2 - Likely not pathogenic or of little clinical significance 0.01418 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Vallee MP et al., Hum Mutat, 37: 627-639, 2016
BIC nucleic acid #: 1377G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.64
  • Combined: 0.64
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00692
  • Co-occurrence: 1.17
  • Functional assay:
  • Products of LRs: 0.00809
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 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 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 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 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.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 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 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 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 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 Deletion c.1361delG 5 - Definitely pathogenic >0.99 Lin (2016) Oncotarget : [Additional report]
BIC nucleic acid #: 1480delG
chr17:41246187 (-) chr17:43094170 (-)
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 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 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 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.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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.0513
  • Co-occurrence: 0.00324
  • Functional assay:
  • Products of LRs:
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 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 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
  • Combined: 0.02
Observational data
  • Segregation: 0.0007
  • Pathology: 0.143
  • Sum Family:
  • Co-occurrence: 9.1225E-07
  • Functional assay:
  • Products of LRs:
chr17:41246092:- chr17:43094075:-
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
  • Combined: 0.02
Observational data
  • Segregation: 1.95
  • Pathology:
  • Sum Family:
  • Co-occurrence: 0.0224
  • Functional assay:
  • Products of LRs:
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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 9.20E-05
  • Functional assay:
  • Products of LRs:
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 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
  • Combined: 0.02
Observational data
  • Segregation: 0.0218
  • Pathology:
  • Sum Family: 0.00065
  • Co-occurrence: 3.72
  • Functional assay:
  • Products of LRs:
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 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 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.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 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 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.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 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 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 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
  • Combined: 0.02
Observational data
  • Segregation: 0.0007
  • Pathology: 0.143
  • Sum Family:
  • Co-occurrence: 0.0000008
  • Functional assay:
  • Products of LRs:
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 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 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 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 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 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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 2.82E-07
  • Co-occurrence: 0.01202
  • Functional assay:
  • Products of LRs:
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.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 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.Ser616del 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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00037
  • Co-occurrence: 2.82
  • Functional assay:
  • Products of LRs:
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 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 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 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
  • Combined: 0.02
Observational data
  • Segregation: 0.00324
  • Pathology:
  • Sum Family: 0.178
  • Co-occurrence: 1.17
  • Functional assay:
  • Products of LRs:
chr17:41245624:- chr17:43093607:-
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 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 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 0.00686 Osorio A et al., Hum Mutat, 28:477-485, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2079A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.9675
  • Sum Family: 0.35
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
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.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 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
  • Combined: 0.02
Observational data
  • Segregation: 1.26
  • Pathology:
  • Sum Family: 0.00141
  • Co-occurrence: 5.37
  • Functional assay:
  • Products of LRs:
chr17:41245546:- chr17:43093529:-
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 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 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.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 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 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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 1.00000E-10
  • Functional assay:
  • Products of LRs:
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 Deletion c.2080delA 5 - Definitely pathogenic >0.99 Drusedau (2013) EJHG 21, 1361
BIC nucleic acid #: 2199delA
chr17:41245468 (-) chr17:43093451 (-)
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.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 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.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 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.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.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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 13.48963
  • Co-occurrence: 1.15E-09
  • Functional assay:
  • Products of LRs:
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 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 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 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 Missense c.2207A>C p.E736A 2 - Likely not pathogenic or of little clinical significance 0.00962 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2326A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.14
  • Sum Family: 3.4
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
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 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 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 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 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 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.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 Deletion c.2314delG 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 2433delG
chr17:41245234 (-) chr17:43093217 (-)
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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 9.40E-06
  • Functional assay:
  • Products of LRs:
chr17:41245233:- chr17:43093216:-
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.2329delT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 2448delT
chr17:41245219 (-) chr17:43093202 (-)
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 Deletion c.2345delG 5 - Definitely pathogenic >0.99 Kim (2017) BMC MG 18,
BIC nucleic acid #: 2464delG
chr17:41245203 (-) chr17:43093186 (-)
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 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 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.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.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
  • Combined: 0.02
Observational data
  • Segregation: 1.12
  • Pathology: 0.0087
  • Sum Family:
  • Co-occurrence: 2.244
  • Functional assay:
  • Products of LRs:
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 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
  • Combined: 0.02
Observational data
  • Segregation: 0.0575
  • Pathology:
  • Sum Family: 0.0038
  • Co-occurrence: 5.25E-08
  • Functional assay:
  • Products of LRs:
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.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.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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Products of LRs:
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
  • Combined: 0.02
Observational data
  • Segregation: 0.4985
  • Pathology: 1
  • Sum Family:
  • Co-occurrence: 0.0000002
  • Functional assay:
  • Products of LRs:
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.2481delA p.Gly828Alafs*18 5 - Definitely pathogenic >0.99 Janavicius (2014) CG 207, 195
BIC nucleic acid #: 2600delA
chr17:41245067 (-) chr17:43093050 (-)
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.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 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 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
  • Combined: 0.02
Observational data
  • Segregation: 4.00E-09
  • Pathology:
  • Sum Family:
  • Co-occurrence: 0.028
  • Functional assay:
  • Products of LRs:
chr17:41245027:- chr17:43093010:-
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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.0603
  • Co-occurrence: 0.00347
  • Functional assay:
  • Products of LRs:
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 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 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.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.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.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 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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 8.80E-03
  • Functional assay:
  • Products of LRs:
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 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
  • Combined: 0.02
Observational data
  • Segregation: 0.269
  • Pathology:
  • Sum Family: 0.00117
  • Co-occurrence: 1.55
  • Functional assay:
  • Products of LRs:
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.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
  • Combined: 0.02
Observational data
  • Segregation: 0.00234
  • Pathology:
  • Sum Family: 2.00E-08
  • Co-occurrence: 0.0174
  • Functional assay:
  • Products of LRs:
chr17:41244952:- chr17:43092935:-
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 SV et al., Hum Mutat, 29(11):1342-1354, 2008
BIC nucleic acid #: 2731C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • 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 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 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 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.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 SV et al., Hum Mutat, 29(11):1342-1354, 2008
BIC nucleic acid #: 2788G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00014
  • Co-occurrence: 1.45
  • Functional assay:
  • 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 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 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 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 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 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 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 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 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 Missense c.2759T>C p.V920A 2 - Likely not pathogenic or of little clinical significance 0.0203 Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006.
BIC nucleic acid #: 2878T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.9811
  • Pathology: 1
  • Sum Family:
  • Co-occurrence: 1.0365238
  • Functional assay:
  • Products of LRs:
chr17:41244789:- chr17:43092772:-
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 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.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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.0389
  • Co-occurrence: 0.00407
  • Functional assay:
  • Products of LRs:
chr17:41244775:- chr17:43092758:-
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 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 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.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.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 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 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.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 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.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 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 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 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 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 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.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 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 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 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>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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Products of LRs:
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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 9.60E-07
  • Functional assay:
  • Products of LRs:
chr17:41244524:- chr17:43092507:-
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 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.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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.0589
  • Co-occurrence: 0.00832
  • Functional assay:
  • Products of LRs:
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.3108delT 5 - Definitely pathogenic >0.99 Pal (2001) Fam Cancer 1; 17
BIC nucleic acid #: 3227delT
chr17:41244440 (-) chr17:43092423 (-)
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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Products of LRs:
chr17:41244435:- chr17:43092418:-
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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Products of LRs:
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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.0288
  • Co-occurrence: 0.00398
  • Functional assay:
  • Products of LRs:
chr17:41244418:- chr17:43092401:-
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 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 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 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 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 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.3279delC 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3398delC
chr17:41244269 (-) chr17:43092252 (-)
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 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
  • Combined: 0.02
Observational data
  • Segregation: 0.0022
  • Pathology: 0.0205
  • Sum Family:
  • Co-occurrence: 0.0000336
  • Functional assay:
  • Products of LRs:
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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 8.71E-08
  • Co-occurrence: 3.55
  • Functional assay:
  • Products of LRs:
chr17:41244246:- chr17:43092229:-
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 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
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.309
  • Co-occurrence: 0.00479
  • Functional assay:
  • Products of LRs:
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.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 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 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 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 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 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.3413delG 5 - Definitely pathogenic >0.99 Amikura (2006) Gynecol Oncol 100; 365
BIC nucleic acid #: 3532delG
chr17:41244135 (-) chr17:43092118 (-)
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
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 2.90E-04
  • Functional assay:
  • Products of LRs:
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 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 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.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 Deletion c.3442delG 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 3561delG
chr17:41244106 (-) chr17:43092089 (-)
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.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
  • Combined: 0.02
Observational data
  • Segregation: 0.0025
  • Pathology: 0.139
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
chr17:41244085:- chr17:43092068:-
Exon 11 Deletion c.3468delT 5 - Definitely pathogenic >0.99 Ruiz-Flores (2002) Hum Mutat 20; 474
BIC nucleic acid #: 3587delT
chr17:41244080 (-) chr17:43092063 (-)
Exon 11 Nonsense c.3472G>T p.E1158* 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3591G>T
chr17:41244076:- chr17:43092059:-
Exon 11 Deletion c.3472delG 5 - Definitely pathogenic >0.99 Sung (2017) PLOS ONE 12, e0185615
BIC nucleic acid #: 3591delG
chr17:41244076 (-) chr17:43092059 (-)
Exon 11 Deletion c.3476_3479del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3595_3598del4
chr17:41244069-41244072 (-) chr17:43092052-43092055 (-)
Exon 11 Deletion c.3477_3480del4 5 - Definitely pathogenic >0.99 Montagna (1996) Cancer Res 56; 5466
BIC nucleic acid #: 3596_3599del4
chr17:41244068-41244071 (-) chr17:43092051-43092054 (-)
Exon 11 Deletion c.3481delG 5 - Definitely pathogenic >0.99 Gross (1999) Hum Genet 105; 72
BIC nucleic acid #: 3600delG
chr17:41244067 (-) chr17:43092050 (-)
Exon 11 Deletion c.3485delA 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 3604delA
chr17:41244063 (-) chr17:43092046 (-)
Exon 11 Deletion c.3479_3488del10 5 - Definitely pathogenic >0.99 Cilotti (2002) J Exp Clin Cancer Res 21, 137
BIC nucleic acid #: 3598_3607del10
chr17:41244060-41244069 (-) chr17:43092043-43092052 (-)
Exon 11 Deletion c.3481_3491del11 5 - Definitely pathogenic >0.99 Struewing (1995) Am J Hum Genet 57; 1
BIC nucleic acid #: 3600_3610del11
chr17:41244057-41244067 (-) chr17:43092040-43092050 (-)
Exon 11 Deletion c.3494_3495delTT 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 3613_3614delTT
chr17:41244053-41244054 (-) chr17:43092036-43092037 (-)
Exon 11 Insertion c.3503dupA 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 3622dupA
chr17:41244044-41244045 (-) chr17:43092027-43092028 (-)
Exon 11 Deletion c.3505_3509del5 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 3624_3628del5
chr17:41244039-41244043 (-) chr17:43092022-43092026 (-)
Exon 11 Nonsense c.3514G>T p.E1172* 5 - Definitely pathogenic >0.99 Curci (2002) Int J Oncol 20; 963
BIC nucleic acid #: 3633G>T
chr17:41244034:- chr17:43092017:-
Exon 11 Deletion c.3531delT 5 - Definitely pathogenic >0.99 Tihomirova (2014) ADVMS 59, 114
BIC nucleic acid #: 3650delT
chr17:41244017 (-) chr17:43092000 (-)
Exon 11 Deletion c.3534delC 5 - Definitely pathogenic >0.99 Alemar (2016) CG 209, 417
BIC nucleic acid #: 3653delC
chr17:41244014 (-) chr17:43091997 (-)
Exon 11 Insertion c.3538dupA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 3657dupA
chr17:41244009-41244010 (-) chr17:43091992-43091993 (-)
Exon 11 Deletion c.3540_3541delCG 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3659_3660delCG
chr17:41244007-41244008 (-) chr17:43091990-43091991 (-)
Exon 11 Deletion c.3545delA 5 - Definitely pathogenic >0.99 Cecener (2014) CANCER INV 32, 375
BIC nucleic acid #: 3664delA
chr17:41244003 (-) chr17:43091986 (-)
Exon 11 Missense c.3548A>G p.K1183R 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 #: 3667A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Products of LRs:
chr17:41244000:- chr17:43091983:-
Exon 11 Deletion c.3549_3550delAG 5 - Definitely pathogenic >0.99 Meijers-Heijboer (2001) N Engl J Med 345; 159
BIC nucleic acid #: 3668_3669delAG
chr17:41243998-41243999 (-) chr17:43091981-43091982 (-)
Exon 11 Indel c.3549_3550delAGinsT 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 3668_3669delAGinsT
chr17:41243998-41243999 (-) chr17:43091981-43091982 (-)
Exon 11 Nonsense c.3553G>T p.E1185* 5 - Definitely pathogenic >0.99 Valarmathi (2004) Hum Mutat 23; 205
BIC nucleic acid #: 3672G>T
chr17:41243995:- chr17:43091978:-
Exon 11 Deletion c.3541_3556del16 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 3660_3675del16
chr17:41243992-41244007 (-) chr17:43091975-43091990 (-)
Exon 11 Insertion c.3564dupG 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 3683dupG
chr17:41243983-41243984 (-) chr17:43091966-43091967 (-)
Exon 11 Insertion c.3575_3576insAA 5 - Definitely pathogenic >0.99 Fu (2007) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24; 341
BIC nucleic acid #: 3694_3695insAA
chr17:41243972-41243973 (-) chr17:43091955-43091956 (-)
Exon 11 Insertion c.3578dupT 5 - Definitely pathogenic >0.99 Eccles (1998) Br J Cancer 77; 2199
BIC nucleic acid #: 3697dupT
chr17:41243969-41243970 (-) chr17:43091952-43091953 (-)
Exon 11 Insertion c.3579_3580insT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3698_3699insT
chr17:41243968-41243969 (-) chr17:43091951-43091952 (-)
Exon 11 Deletion c.3583delC 5 - Definitely pathogenic >0.99 Esteban Cardeñosa (2008) Breast Cancer Res Treat 112; 69
BIC nucleic acid #: 3702delC
chr17:41243965 (-) chr17:43091948 (-)
Exon 11 Insertion c.3586dupA 5 - Definitely pathogenic >0.99 Simard (2007) J Med Genet 44; 107
BIC nucleic acid #: 3705dupA
chr17:41243961-41243962 (-) chr17:43091944-43091945 (-)
Exon 11 Deletion c.3582_3589del8 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 3701_3708del8
chr17:41243959-41243966 (-) chr17:43091942-43091949 (-)
Exon 11 Nonsense c.3593T>A p.L1198* 5 - Definitely pathogenic >0.99 Ahn (2007) Cancer Lett 245; 90
BIC nucleic acid #: 3712T>A
chr17:41243955:- chr17:43091938:-
Exon 11 Nonsense c.3598C>T p.Q1200* 5 - Definitely pathogenic >0.99 Tartaglini (1998) Hum Mutat S1; S163
BIC nucleic acid #: 3717C>T
chr17:41243950:- chr17:43091933:-
Exon 11 Missense c.3600G>C p.Q1200H 2 - Likely not pathogenic or of little clinical significance 0.00709 Osorio A et al., Hum Mutat, 28:477-485, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3719G>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 0.35
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
chr17:41243948:- chr17:43091931:-
Exon 11 Deletion c.3596_3602del7 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 3715_3721del7
chr17:41243946-41243952 (-) chr17:43091929-43091935 (-)
Exon 11 Nonsense c.3607C>T p.R1203* 5 - Definitely pathogenic >0.99 Friedman (1994) Nat Genet 8; 399
BIC nucleic acid #: 3726C>T
chr17:41243941:- chr17:43091924:-
Exon 11 Missense c.3608G>A p.R1203Q 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 #: 3727G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.00661
  • Pathology:
  • Sum Family: 0.0195
  • Co-occurrence: 1.41
  • Functional assay:
  • Products of LRs:
chr17:41243940:- chr17:43091923:-
Exon 11 Deletion c.3612delA 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 3731delA
chr17:41243936 (-) chr17:43091919 (-)
Exon 11 Deletion c.3624delA 5 - Definitely pathogenic >0.99 Konstantopoulou (2014) CLIN GENET 85, 36
BIC nucleic acid #: 3743delA
chr17:41243924 (-) chr17:43091907 (-)
Exon 11 Insertion c.3624dupA 5 - Definitely pathogenic >0.99 Konstantopoulou (2000) Hum Mutat 16; 272
BIC nucleic acid #: 3743dupA
chr17:41243923-41243924 (-) chr17:43091906-43091907 (-)
Exon 11 Indel c.3621_3626del6insAA 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 3740_3745del6insAA
chr17:41243922-41243927 (-) chr17:43091905-43091910 (-)
Exon 11 Deletion c.3626delT 5 - Definitely pathogenic >0.99 Vehmanen (1997) Hum Mol Genet 6; 2309
BIC nucleic acid #: 3745delT
chr17:41243922 (-) chr17:43091905 (-)
Exon 11 Insertion c.3626dupT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3745dupT
chr17:41243921-41243922 (-) chr17:43091904-43091905 (-)
Exon 11 Insertion c.3627dupA 5 - Definitely pathogenic >0.99 Kim (2006) Biochem Biophys Res Commun 349; 604
BIC nucleic acid #: 3746dupA
chr17:41243920-41243921 (-) chr17:43091903-43091904 (-)
Exon 11 Deletion c.3628delG 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 3747delG
chr17:41243920 (-) chr17:43091903 (-)
Exon 11 Deletion c.3629_3630delAG 5 - Definitely pathogenic >0.99 Sauvan (2000) Hum Mutat 17; 154
BIC nucleic acid #: 3748_3749delAG
chr17:41243918-41243919 (-) chr17:43091901-43091902 (-)
Exon 11 Insertion c.3629dupA 5 - Definitely pathogenic >0.99 Jang (2015) GENET MED 17, 1007
BIC nucleic acid #: 3748dupA
chr17:41243918-41243919 (-) chr17:43091901-43091902 (-)
Exon 11 Nonsense c.3635C>A p.S1212* 5 - Definitely pathogenic >0.99 Churpek (2015) BCRT 149, 31
BIC nucleic acid #: 3754C>A
chr17:41243913:- chr17:43091896:-
Exon 11 Nonsense c.3637G>T p.E1213* 5 - Definitely pathogenic >0.99 Sung (2017) PLOS ONE 12, e0185615
BIC nucleic acid #: 3756G>T
chr17:41243911:- chr17:43091894:-
Exon 11 Nonsense c.3640G>T p.E1214* 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 3759G>T
chr17:41243908:- chr17:43091891:-
Exon 11 Missense c.3640G>A p.E1214K 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 #: 3759G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.00117
  • Pathology:
  • Sum Family: 0.00389
  • Co-occurrence: 0.00741
  • Functional assay:
  • Products of LRs:
chr17:41243908:- chr17:43091891:-
Exon 11 Deletion c.3642_3643delGA 5 - Definitely pathogenic >0.99 Machackova (2001) Hum Mutat 18; 545
BIC nucleic acid #: 3761_3762delGA
chr17:41243905-41243906 (-) chr17:43091888-43091889 (-)
Exon 11 Nonsense c.3647T>G p.L1216* 5 - Definitely pathogenic >0.99 Yamashita (1999) Breast Cancer Res Treat 58; 11
BIC nucleic acid #: 3766T>G
chr17:41243901:- chr17:43091884:-
Exon 11 Insertion c.3648dupA 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 3767dupA
chr17:41243899-41243900 (-) chr17:43091882-43091883 (-)
Exon 11 Insertion c.3649dupT 5 - Definitely pathogenic >0.99 van Orsouw (1999) J Med Genet 36; 747
BIC nucleic acid #: 3768dupT
chr17:41243898-41243899 (-) chr17:43091881-43091882 (-)
Exon 11 Nonsense c.3661G>T p.E1221* 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 3780G>T
chr17:41243887:- chr17:43091870:-
Exon 11 Nonsense c.3664G>T p.E1222* 5 - Definitely pathogenic >0.99 Churpek (2015) BCRT 149, 31
BIC nucleic acid #: 3783G>T
chr17:41243884:- chr17:43091867:-
Exon 11 Insertion c.3668_3671dup4 5 - Definitely pathogenic >0.99 S/NI consortium (2003) Br J Cancer 88; 1256
BIC nucleic acid #: 3787_3790dup4
chr17:41243876-41243877 (-) chr17:43091859-43091860 (-)
Exon 11 Deletion c.3672delC 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3791delC
chr17:41243876 (-) chr17:43091859 (-)
Exon 11 Deletion c.3676_3679del4 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3795_3798del4
chr17:41243869-41243872 (-) chr17:43091852-43091855 (-)
Exon 11 Nonsense c.3689T>G p.L1230* 5 - Definitely pathogenic >0.99 Blay (2013) BMC Cancer 13;
BIC nucleic acid #: 3808T>G
chr17:41243859:- chr17:43091842:-
Exon 11 Insertion c.3693dupT 5 - Definitely pathogenic >0.99 Rashid (2006) Int J Cancer 119; 2832
BIC nucleic acid #: 3812dupT
chr17:41243854-41243855 (-) chr17:43091837-43091838 (-)
Exon 11 Deletion c.3695_3698del4 5 - Definitely pathogenic >0.99 Esteban Cardeñosa (2010) Breast Cancer Res Treat 121; 257
BIC nucleic acid #: 3814_3817del4
chr17:41243850-41243853 (-) chr17:43091833-43091836 (-)
Exon 11 Deletion c.3699delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3818delA
chr17:41243849 (-) chr17:43091832 (-)
Exon 11 Deletion c.3700_3704del5 5 - Definitely pathogenic >0.99 Takahashi (1995) Cancer Res 55; 2998
BIC nucleic acid #: 3819_3823del5
chr17:41243844-41243848 (-) chr17:43091827-43091831 (-)
Exon 11 Deletion c.3704delA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3823delA
chr17:41243844 (-) chr17:43091827 (-)
Exon 11 Deletion c.3704_3707del4 5 - Definitely pathogenic >0.99 Palomba (2009) BMC Cancer 9; 245
BIC nucleic acid #: 3823_3826del4
chr17:41243841-41243844 (-) chr17:43091824-43091827 (-)
Exon 11 Deletion c.3706_3707delAA 5 - Definitely pathogenic >0.99 Alharbi (2005) Genome Res 15; 967
BIC nucleic acid #: 3825_3826delAA
chr17:41243841-41243842 (-) chr17:43091824-43091825 (-)
Exon 11 Missense c.3708T>G p.N1236K 3 - Uncertain 0.0651 Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3827T>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.2975
  • Pathology: 1
  • Sum Family:
  • Co-occurrence: 11.4654
  • Functional assay:
  • Products of LRs:
chr17:41243840:- chr17:43091823:-
Exon 11 Deletion c.3710delT 5 - Definitely pathogenic >0.99 Johannsson (1996) Am J Hum Genet 58; 441
BIC nucleic acid #: 3829delT
chr17:41243838 (-) chr17:43091821 (-)
Exon 11 Deletion c.3706_3713del8 5 - Definitely pathogenic >0.99 Haffty (2009) Ann Oncol 20; 1653
BIC nucleic acid #: 3825_3832del8
chr17:41243835-41243842 (-) chr17:43091818-43091825 (-)
Exon 11 Missense c.3713C>T p.P1238L 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 #: 3832C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 3.47
  • Pathology:
  • Sum Family: 0.00001
  • Co-occurrence: 0.049
  • Functional assay:
  • Products of LRs:
chr17:41243835:- chr17:43091818:-
Exon 11 Deletion c.3715delT 5 - Definitely pathogenic >0.99 Uhrhammer (2008) Int J Med Sci 5; 197
BIC nucleic acid #: 3834delT
chr17:41243833 (-) chr17:43091816 (-)
Exon 11 Indel c.3715_3717delTCTinsC 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 3834–3836delTCT;insC
chr17:41243831-41243833 (-) chr17:43091814-43091816 (-)
Exon 11 Nonsense c.3718C>T p.Q1240* 5 - Definitely pathogenic >0.99 Kwon (2008) Int J Gynecol Cancer 18; 546
BIC nucleic acid #: 3837C>T
chr17:41243830:- chr17:43091813:-
Exon 11 Deletion c.3731_3738del8 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3850_3857del8
chr17:41243810-41243817 (-) chr17:43091793-43091800 (-)
Exon 11 Missense c.3739G>A p.V1247I 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 #: 3858G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.00316
  • Pathology:
  • Sum Family: 0.0263
  • Co-occurrence: 1.48
  • Functional assay:
  • Products of LRs:
chr17:41243809:- chr17:43091792:-
Exon 11 Nonsense c.3748G>T p.E1250* 5 - Definitely pathogenic >0.99 Castilla (1994) Nat Genet 8; 387
BIC nucleic acid #: 3867G>T
chr17:41243800:- chr17:43091783:-
Exon 11 Missense c.3748G>A p.E1250K 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 #: 3867G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 1.00E-05
  • Functional assay:
  • Products of LRs:
chr17:41243800:- chr17:43091783:-
Exon 11 Insertion c.3751dupT 5 - Definitely pathogenic >0.99 Fourati (2014) BULL CANC 101, E36
BIC nucleic acid #: 3870dupT
chr17:41243796-41243797 (-) chr17:43091779-43091780 (-)
Exon 11 Nonsense c.3753T>A p.C1251* 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 3872T>A
chr17:41243795:- chr17:43091778:-
Exon 11 Deletion c.3756_3757delGT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3875_3876delGT
chr17:41243791-41243792 (-) chr17:43091774-43091775 (-)
Exon 11 Deletion c.3756_3759del4 5 - Definitely pathogenic >0.99 Castilla (1994) Nat Genet 8; 387
BIC nucleic acid #: 3875_3878del4
chr17:41243789-41243792 (-) chr17:43091772-43091775 (-)
Exon 11 Deletion c.3758_3759delCT 5 - Definitely pathogenic >0.99 Solano (2012) SpringerPlus 1;
BIC nucleic acid #: 3877_3878delCT
chr17:41243789-41243790 (-) chr17:43091772-43091773 (-)
Exon 11 Deletion c.3759_3760delTA 5 - Definitely pathogenic >0.99 John (2007) JAMA 298; 2869
BIC nucleic acid #: 3878_3879delTA
chr17:41243788-41243789 (-) chr17:43091771-43091772 (-)
Exon 11 Insertion c.3759dupT 5 - Definitely pathogenic >0.99 Greenman (1998) Genes Chromosomes Cancer 21; 244
BIC nucleic acid #: 3878dupT
chr17:41243788-41243789 (-) chr17:43091771-43091772 (-)
Exon 11 Insertion c.3760_3761insT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 3879_3880insT
chr17:41243787-41243788 (-) chr17:43091770-43091771 (-)
Exon 11 Insertion c.3761_3762insTT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3880_3881insTT
chr17:41243786-41243787 (-) chr17:43091769-43091770 (-)
Exon 11 Deletion c.3762_3763delGA 5 - Definitely pathogenic >0.99 Ottini (1998) Hum Mutat S1; S237
BIC nucleic acid #: 3881_3882elGA
chr17:41243785-41243786 (-) chr17:43091768-43091769 (-)
Exon 11 Deletion c.3763_3764delAA 5 - Definitely pathogenic >0.99 Alharbi (2005) Genome Res 15; 967
BIC nucleic acid #: 3882_3883delAA
chr17:41243784-41243785 (-) chr17:43091767-43091768 (-)
Exon 11 Insertion c.3764dupA 5 - Definitely pathogenic >0.99 Gao (1997) Am J Hum Genet 60; 1233
BIC nucleic acid #: 3883dupA
chr17:41243783-41243784 (-) chr17:43091766-43091767 (-)
Exon 11 Deletion c.3767_3768delCA 5 - Definitely pathogenic >0.99 Andres (2014) CLTO 16, 280
BIC nucleic acid #: 3886_3887delCA
chr17:41243780-41243781 (-) chr17:43091763-43091764 (-)
Exon 11 Deletion c.3770_3771delAG 5 - Definitely pathogenic >0.99 Takahashi (1995) Cancer Res 55; 2998
BIC nucleic acid #: 3889_3890delAG
chr17:41243777-41243778 (-) chr17:43091760-43091761 (-)
Exon 11 Indel c.3771_3772delGGinsC 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 3890_3891delGGinsC
chr17:41243776-41243777 (-) chr17:43091759-43091760 (-)
Exon 11 Nonsense c.3772G>T p.E1258* 5 - Definitely pathogenic >0.99 Maillet (2006) Cancer Genet Cytogenet 169; 62
BIC nucleic acid #: 3891G>T
chr17:41243776:- chr17:43091759:-
Exon 11 Deletion c.3774_3775delGA 5 - Definitely pathogenic >0.99 Bonadona (2005) Genes Chromosomes Cancer 43; 404
BIC nucleic acid #: 3893_3894delGA
chr17:41243773-41243774 (-) chr17:43091756-43091757 (-)
Exon 11 Deletion c.3771_3778del8 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 3890_3897del8
chr17:41243770-41243777 (-) chr17:43091753-43091760 (-)
Exon 11 Deletion c.3779delT 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 3898delT
chr17:41243769 (-) chr17:43091752 (-)
Exon 11 Deletion c.3780_3781delAT 5 - Definitely pathogenic >0.99 Cao (2015) BMC C 16,
BIC nucleic acid #: 3899_3900delAT
chr17:41243767-41243768 (-) chr17:43091750-43091751 (-)
Exon 11 Nonsense c.3782T>G p.L1261* 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 3901T>G
chr17:41243766:- chr17:43091749:-
Exon 11 Nonsense c.3785C>A p.S1262* 5 - Definitely pathogenic >0.99 Vehmanen (1997) Hum Mol Genet 6; 2309
BIC nucleic acid #: 3904C>A
chr17:41243763:- chr17:43091746:-
Exon 11 Deletion c.3794delA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 3913delA
chr17:41243754 (-) chr17:43091737 (-)
Exon 11 Missense c.3797G>C p.S1266T 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 #: 3916G>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.01349
  • Co-occurrence: 0.00407
  • Functional assay:
  • Products of LRs:
chr17:41243751:- chr17:43091734:-
Exon 11 Insertion c.3813dupT p.N1272* 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3932dupT
chr17:41243734-41243735 (-) chr17:43091717-43091718 (-)
Exon 11 Insertion c.3814_3815insT 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3933_3934insT
chr17:41243733-41243734 (-) chr17:43091716-43091717 (-)
Exon 11 Nonsense c.3817C>T p.Q1273* 5 - Definitely pathogenic >0.99 Gallardo (2004) Rev Med Chil 132; 203
BIC nucleic acid #: 3936C>T
chr17:41243731:- chr17:43091714:-
Exon 11 Deletion c.3820delG p.V1274* 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 3939delG
chr17:41243728 (-) chr17:43091711 (-)
Exon 11 Insertion c.3820dupG 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 3939dupG
chr17:41243727-41243728 (-) chr17:43091710-43091711 (-)
Exon 11 Deletion c.3819_3823del5 5 - Definitely pathogenic >0.99 Zhong (2016) PLOS ONE 11, e0156789
BIC nucleic acid #: 3938_3942del5
chr17:41243725-41243729 (-) chr17:43091708-43091712 (-)
Exon 11 Insertion c.3822_3823insT 5 - Definitely pathogenic >0.99 Mote (2004) Genes Chromosomes Cancer 39; 236
BIC nucleic acid #: 3941_3942insT
chr17:41243725-41243726 (-) chr17:43091708-43091709 (-)
Exon 11 Missense c.3823A>G p.I1275V 1 - Not pathogenic or of no clinical significance 0.00003 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007 Vallee MP et al., Hum Mutat, 37: 627-639, 2016
BIC nucleic acid #: 3942A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.64
  • Combined: 0.64
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00000525
  • Co-occurrence: 3.09
  • Functional assay:
  • Products of LRs: 0.0000162
chr17:41243725:- chr17:43091708:-
Exon 11 Deletion c.3835delG 5 - Definitely pathogenic >0.99 Siraj (2017) HUM GENET 136, 1431
BIC nucleic acid #: 3954delG
chr17:41243713 (-) chr17:43091696 (-)
Exon 11 Nonsense c.3841C>T p.Q1281* 5 - Definitely pathogenic >0.99 Caputo (2012) Nucleic Acids Res 40: D992 [Additional report]
BIC nucleic acid #: 3960C>T
chr17:41243707:- chr17:43091690:-
Exon 11 Indel c.3839_3843del5ins4 p.S1280* 5 - Definitely pathogenic >0.99 Presneau (1998) Hum Genet 103; 334
BIC nucleic acid #: 3958_3962del5ins4
chr17:41243705-41243709 (-) chr17:43091688-43091692 (-)
Exon 11 Deletion c.3844delG 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 3963delG
chr17:41243704 (-) chr17:43091687 (-)
Exon 11 Deletion c.3858_3861del4 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 3977_3980del4
chr17:41243687-41243690 (-) chr17:43091670-43091673 (-)
Exon 11 Nonsense c.3862G>T p.E1288* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3981G>T
chr17:41243686:- chr17:43091669:-
Exon 11 Deletion c.3858_3867del10 5 - Definitely pathogenic >0.99 Wong (2016) NPJ GM 1, 15003
BIC nucleic acid #: 3977_3986del10
chr17:41243681-41243690 (-) chr17:43091664-43091673 (-)
Exon 11 Nonsense c.3868A>T p.K1290* 5 - Definitely pathogenic >0.99 Churpek (2015) BCRT 149, 31
BIC nucleic acid #: 3987A>T
chr17:41243680:- chr17:43091663:-
Exon 11 Deletion c.3869_3870delAA 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 3988_3989delAA
chr17:41243678-41243679 (-) chr17:43091661-43091662 (-)
Exon 11 Insertion c.3871_3872insC 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 3990_3991insC
chr17:41243676-41243677 (-) chr17:43091659-43091660 (-)
Exon 11 Deletion c.3874delT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3993delT
chr17:41243674 (-) chr17:43091657 (-)
Exon 11 Deletion c.3876delT 5 - Definitely pathogenic >0.99 Walsh (2011) Proc Natl Acad Sci U S A 108; 18032
BIC nucleic acid #: 3995delT
chr17:41243672 (-) chr17:43091655 (-)
Exon 11 Nonsense c.3893C>A p.S1298* 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 4012C>A
chr17:41243655:- chr17:43091638:-
Exon 11 Nonsense c.3895C>T p.Q1299* 5 - Definitely pathogenic >0.99 Kang (2002) Hum Mutat 20; 235
BIC nucleic acid #: 4014C>T
chr17:41243653:- chr17:43091636:-
Exon 11 Deletion c.3901_3902delAG 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 4020_4021delAG
chr17:41243646-41243647 (-) chr17:43091629-43091630 (-)
Exon 11 Nonsense c.3904G>T p.E1302* 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 4023G>T
chr17:41243644:- chr17:43091627:-
Exon 11 Insertion c.3908dupT 5 - Definitely pathogenic >0.99 Susswein (2016) GENET MED 18, 823
BIC nucleic acid #: 4027dupT
chr17:41243639-41243640 (-) chr17:43091622-43091623 (-)
Exon 11 Deletion c.3910delG 5 - Definitely pathogenic >0.99 Heidemann (2012) Breast Cancer Res Treat 134; 1229
BIC nucleic acid #: 4029delG
chr17:41243638 (-) chr17:43091621 (-)
Exon 11 Deletion c.3914delA 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 4033delA
chr17:41243634 (-) chr17:43091617 (-)
Exon 11 Deletion c.3915delC p.L1306* 5 - Definitely pathogenic >0.99 Muendlein (2015) JCRCO 141, 2005
BIC nucleic acid #: 4034delC
chr17:41243633 (-) chr17:43091616 (-)
Exon 11 Deletion c.3916_3917delTT 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 4035_4036delTT
chr17:41243631-41243632 (-) chr17:43091614-43091615 (-)
Exon 11 Insertion c.3917dupT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 4036dupT
chr17:41243630-41243631 (-) chr17:43091613-43091614 (-)
Exon 11 Deletion c.3926delA 5 - Definitely pathogenic >0.99 Muller (2004) Fam Cancer 3; 15
BIC nucleic acid #: 4045delA
chr17:41243622 (-) chr17:43091605 (-)
Exon 11 Insertion c.3928dupA 5 - Definitely pathogenic >0.99 Santonocito (2017) BREAST 36, 74
BIC nucleic acid #: 4047dupA
chr17:41243619-41243620 (-) chr17:43091602-43091603 (-)
Exon 11 Missense c.3929C>A p.T1310K 3 - Uncertain 0.0649 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 4048C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 3.4
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
chr17:41243619:- chr17:43091602:-
Exon 11 Deletion c.3927_3930del4 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 4046_4049del4
chr17:41243618-41243621 (-) chr17:43091601-43091604 (-)
Exon 11 Deletion c.3932delA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 4051delA
chr17:41243616 (-) chr17:43091599 (-)
Exon 11 Deletion c.3931_3934del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4050_4053del4
chr17:41243614-41243617 (-) chr17:43091597-43091600 (-)
Exon 11 Nonsense c.3937C>T p.Q1313* 5 - Definitely pathogenic >0.99 Miki (1994) Science 266; 66
BIC nucleic acid #: 4056C>T
chr17:41243611:- chr17:43091594:-
Exon 11 Deletion c.3947_3950del4 p.Phe1316* 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 4066_4069del4
chr17:41243598-41243601 (-) chr17:43091581-43091584 (-)
Exon 11 Deletion c.3952_3955del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4071_4074del4
chr17:41243593-41243596 (-) chr17:43091576-43091579 (-)
Exon 11 Nonsense c.3967C>T p.Q1323* 5 - Definitely pathogenic >0.99 Capalbo (2006) Ann Oncol 17S7; vii34
BIC nucleic acid #: 4086C>T
chr17:41243581:- chr17:43091564:-
Exon 11 Deletion c.3967delC 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 4086delC
chr17:41243581 (-) chr17:43091564 (-)
Exon 11 Deletion c.3969_3970delAA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 4088_4089delAA
chr17:41243578-41243579 (-) chr17:43091561-43091562 (-)
Exon 11 Deletion c.3968_3971del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4087_4090del4
chr17:41243577-41243580 (-) chr17:43091560-43091563 (-)
Exon 11 Deletion c.3973delA 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 4092delA
chr17:41243575 (-) chr17:43091558 (-)
Exon 11 Nonsense c.3979C>T p.Q1327* 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 4098C>T
chr17:41243569:- chr17:43091552:-
Exon 11 Deletion c.3981delG 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 4100delG
chr17:41243567 (-) chr17:43091550 (-)
Exon 11 Insertion c.3982dupT 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 4101dupT
chr17:41243565-41243566 (-) chr17:43091548-43091549 (-)
Exon 11 Nonsense c.3991C>T p.Q1331* 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 4110C>T
chr17:41243557:- chr17:43091540:-
Exon 11 Deletion c.3999delT 5 - Definitely pathogenic >0.99 Awadelkarim (2007) Breast Cancer Res Treat 102; 189
BIC nucleic acid #: 4118delT
chr17:41243549 (-) chr17:43091532 (-)
Exon 11 Deletion c.4001delG 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 4120delG
chr17:41243547 (-) chr17:43091530 (-)
Exon 11 Deletion c.4002_4005del4 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 4121_4124del4
chr17:41243543-41243546 (-) chr17:43091526-43091529 (-)
Exon 11 Deletion c.4013delA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 4132delA
chr17:41243535 (-) chr17:43091518 (-)
Exon 11 Nonsense c.4015G>T p.E1339* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 4134G>T
chr17:41243533:- chr17:43091516:-
Exon 11 Insertion c.4015dupG 5 - Definitely pathogenic >0.99 De Brakeleer (2016) CLIN GENET 89, 336
BIC nucleic acid #: 4134dupG
chr17:41243532-41243533 (-) chr17:43091515-43091516 (-)
Exon 11 Deletion c.4032_4034delTGA p.D1344del 5 - Definitely pathogenic >0.99 Tikhomirova (2007) Genetika 43; 1263
BIC nucleic acid #: 4151_4153delTGA
chr17:41243514-41243516 (-) chr17:43091497-43091499 (-)
Exon 11 Deletion c.4035delA 5 - Definitely pathogenic >0.99 Gayther (1996) Am J Hum Genet 58; 451
BIC nucleic acid #: 4154delA
chr17:41243513 (-) chr17:43091496 (-)
Exon 11 Deletion c.4038_4039delAA 5 - Definitely pathogenic >0.99 Salgado (2011) Oncol Lett 2; 807
BIC nucleic acid #: 4157_4158delAA
chr17:41243509-41243510 (-) chr17:43091492-43091493 (-)
Exon 11 Missense c.4039A>G p.R1347G 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 #: 4158A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Products of LRs:
chr17:41243509:- chr17:43091492:-
Exon 11 Deletion c.4038_4041del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4157_4160del4
chr17:41243507-41243510 (-) chr17:43091490-43091493 (-)
Exon 11 Deletion c.4041_4042delAG 5 - Definitely pathogenic >0.99 Eccles (1998) Br J Cancer 77; 2199
BIC nucleic acid #: 4160_4161delAG
chr17:41243506-41243507 (-) chr17:43091489-43091490 (-)
Exon 11 Nonsense c.4042G>T p.G1348* 5 - Definitely pathogenic >0.99 Solano (2016) ONCTARG 8, 60487
BIC nucleic acid #: 4161G>T
chr17:41243506:- chr17:43091489:-
Exon 11 Deletion c.4043delG 5 - Definitely pathogenic >0.99 S/NI Consortium (2003) Br J Cancer 88; 1256
BIC nucleic acid #: 4162delG
chr17:41243505 (-) chr17:43091488 (-)
Exon 11 Missense c.4046C>T p.T1349M 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 #: 4165C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00195
  • Co-occurrence: 1.1
  • Functional assay:
  • Products of LRs:
chr17:41243502:- chr17:43091485:-
Exon 11 Insertion c.4049dupG 5 - Definitely pathogenic >0.99 Kwong (2009) Breast Cancer Res Treat 117; 683
BIC nucleic acid #: 4168dupG
chr17:41243498-41243499 (-) chr17:43091481-43091482 (-)
Exon 11 Nonsense c.4052T>A p.L1351* 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 4171T>A
chr17:41243496:- chr17:43091479:-
Exon 11 Insertion c.4052dupT 5 - Definitely pathogenic >0.99 Stuppia (2003) Hum Mutat 22; 178
BIC nucleic acid #: 4171dupT
chr17:41243495-41243496 (-) chr17:43091478-43091479 (-)
Exon 11 Nonsense c.4057G>T p.E1353* 5 - Definitely pathogenic >0.99 Alharbi (2005) Genome Res 15; 967
BIC nucleic acid #: 4176G>T
chr17:41243491:- chr17:43091474:-
Exon 11 Deletion c.4057_4061del5 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 4176_4180del5
chr17:41243487-41243491 (-) chr17:43091470-43091474 (-)
Exon 11 Nonsense c.4066C>T p.Q1356* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 4185C>T
chr17:41243482:- chr17:43091465:-
Exon 11 Deletion c.4062_4068del7 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 4181_4187del7
chr17:41243480-41243486 (-) chr17:43091463-43091469 (-)
Exon 11 Deletion c.4065_4068del4 5 - Definitely pathogenic >0.99 Friedman (1994) Nat Genet 8; 399
BIC nucleic acid #: 4184_4187del4
chr17:41243480-41243483 (-) chr17:43091463-43091466 (-)
Exon 11 Deletion c.4066_4069del4 5 - Definitely pathogenic >0.99 Jara (2004) Biol Res 37; 469
BIC nucleic acid #: 4185_4188del4
chr17:41243479-41243482 (-) chr17:43091462-43091465 (-)
Exon 11 Nonsense c.4069G>T p.E1357* 5 - Definitely pathogenic >0.99 Maxwell (2017) NAT COMM 8, 319
BIC nucleic acid #: 4188G>T
chr17:41243479:- chr17:43091462:-
Exon 11 Insertion c.4069_4070ins4 5 - Definitely pathogenic >0.99 Zhong (2016) PLOS ONE 11, e0156789
BIC nucleic acid #: 4188_4189ins4
chr17:41243478-41243479 (-) chr17:43091461-43091462 (-)
Exon 11 Nonsense c.4075C>T p.Q1359* 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 4194C>T
chr17:41243473:- chr17:43091456:-
Exon 11 Missense c.4081A>C p.M1361L 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 #: 4200A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00813
  • Co-occurrence: 1.17
  • Functional assay:
  • Products of LRs:
chr17:41243467:- chr17:43091450:-
Exon 11 Nonsense c.4088C>G p.S1363* 5 - Definitely pathogenic >0.99 Michils (2012) J Mol Diagn 14; 623
BIC nucleic acid #: 4207C>G
chr17:41243460:- chr17:43091443:-
Exon 11 Deletion c.4092_4093delCT 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 4211_4212delCT
chr17:41243455-41243456 (-) chr17:43091438-43091439 (-)
Exon 11 Nonsense c.4094T>G p.L1365* 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 4213T>G
chr17:41243454:- chr17:43091437:-
Exon 11 Deletion c.4094delT p.L1365* 5 - Definitely pathogenic >0.99 Vaidyanathan (2009) J Biosci 34; 415
BIC nucleic acid #: 4213delT
chr17:41243454 (-) chr17:43091437 (-)
Intron 11 Splice Site c.4096+1G>A 5 - Definitely pathogenic >0.99 Bonatti (2006) Cancer Genet Cytogenet 170; 93
BIC nucleic acid #: 4215+1G>A
chr17:41243451:- chr17:43091434:-
Intron 11 Splice Site c.4096+3A>G 5 - Definitely pathogenic >0.99 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 4215+3A>G
chr17:41243449:- chr17:43091432:-
Intron 11 Splice Site c.4097-2A>G 5 - Definitely pathogenic >0.99 Vehmanen (1997) Hum Mol Genet 6; 2309
BIC nucleic acid #: 4216-2A>G
chr17:41243051:- chr17:43091034:-
Intron 11 Splice Site c.4097-1G>A 5 - Definitely pathogenic >0.99 Easton (2007) Am J Hum Genet 81; 873 Lindor (2012) Hum Mutat 33: 8 [Additional report]
BIC nucleic acid #: 4216-1G>A
chr17:41243050:- chr17:43091033:-
Exon 12 Insertion c.4107_4110dup4 5 - Definitely pathogenic >0.99 de la Hoya (2001) Int J Cancer 91; 137
BIC nucleic acid #: 4226_4229dup4
chr17:41243035-41243036 (-) chr17:43091018-43091019 (-)
Exon 12 Nonsense c.4116T>A p.C1372* 5 - Definitely pathogenic >0.99 Sakayori (2003) J Hum Genet 48; 130
BIC nucleic acid #: 4235T>A
chr17:41243030:- chr17:43091013:-
Exon 12 Nonsense c.4117G>T p.E1373* 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 4236G>T
chr17:41243029:- chr17:43091012:-
Exon 12 Deletion c.4120_4121delAG 5 - Definitely pathogenic >0.99 Montagna (1996) Cancer Res 56; 5466
BIC nucleic acid #: 4239_4230delAG
chr17:41243025-41243026 (-) chr17:43091008-43091009 (-)
Exon 12 Deletion c.4122_4123delTG 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 4241_4242delTG
chr17:41243023-41243024 (-) chr17:43091006-43091007 (-)
Exon 12 Deletion c.4126_4129del4 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 4245_4248del4
chr17:41243017-41243020 (-) chr17:43091000-43091003 (-)
Exon 12 Deletion c.4128_4129delAA 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 4247_4248delAA
chr17:41243017-41243018 (-) chr17:43091000-43091001 (-)
Exon 12 Deletion c.4129delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4248delA
chr17:41243017 (-) chr17:43091000 (-)
Exon 12 Deletion c.4136_4137delCT 5 - Definitely pathogenic >0.99 Li (2006) Int J Gynecol Cancer 16S1; 172
BIC nucleic acid #: 4255_4256delCT
chr17:41243009-41243010 (-) chr17:43090992-43090993 (-)
Exon 12 Nonsense c.4148C>G p.S1383* 5 - Definitely pathogenic >0.99 Kang (2014) BCRT 144, 635
BIC nucleic acid #: 4267C>G
chr17:41242998:- chr17:43090981:-
Exon 12 Deletion c.4158_4162del5 5 - Definitely pathogenic >0.99 Rajkumar (2003) Asian Pac J Mol Biol Biotechnol 4; 203
BIC nucleic acid #: 4277_4281del5
chr17:41242984-41242988 (-) chr17:43090967-43090971 (-)
Exon 12 Deletion c.4161_4162delTC 5 - Definitely pathogenic >0.99 Hamann (1997) J Med Genet 34; 884
BIC nucleic acid #: 4280_4281delTC
chr17:41242984-41242985 (-) chr17:43090967-43090968 (-)
Exon 12 Deletion c.4165_4166delAG p.S1389* 5 - Definitely pathogenic >0.99 Dong (1998) Hum Genet 103; 154
BIC nucleic acid #: 4284_4285delAG
chr17:41242980-41242981 (-) chr17:43090963-43090964 (-)
Exon 12 Insertion c.4165_4166dupAG 5 - Definitely pathogenic >0.99 de la Hoya (2002) Int J Cancer 100; 618
BIC nucleic acid #: 4284_4285dupAG
chr17:41242979-41242980 (-) chr17:43090962-43090963 (-)
Exon 12 Deletion c.4167delT 5 - Definitely pathogenic >0.99 Martin (2001) J Clin Oncol 19; 2247
BIC nucleic acid #: 4286delT
chr17:41242979 (-) chr17:43090962 (-)
Exon 12 Deletion c.4167_4168delTG 5 - Definitely pathogenic >0.99 Fostira (2012) Breast Cancer Res Treat 134; 353
BIC nucleic acid #: 4286_4287delTG
chr17:41242978-41242979 (-) chr17:43090961-43090962 (-)
Exon 12 Nonsense c.4183C>T p.Q1395* 5 - Definitely pathogenic >0.99 Langston (1996) N Engl J Med 334; 137
BIC nucleic acid #: 4302C>T
chr17:41242963:- chr17:43090946:-
Exon 12 Insertion c.4182_4183dupTC 5 - Definitely pathogenic >0.99 Yang (2011) JAMA 306; 1557
BIC nucleic acid #: 4301_4302dupTC
chr17:41242962-41242963 (-) chr17:43090945-43090946 (-)
Exon 12 Deletion c.4183_4185delCAG p.Gln1395del 5 - Definitely pathogenic >0.99 Balz (2002) Cancer Genet Cytogenet 138; 120
BIC nucleic acid #: 4302_4304delCAG
chr17:41242961-41242963 (-) chr17:43090944-43090946 (-)
Exon 12 Splice Site c.4185G>A 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428 Machackova (2008) BMC Cancer 8: 140 [Additional report]
BIC nucleic acid #: 4304G>A
chr17:41242961:- chr17:43090944:-
Intron 12 Splice Site c.4185+1G>A 5 - Definitely pathogenic >0.99 Steffensen (2014) Eur J Hum Genet 22, 1362
BIC nucleic acid #: 4304+1G>A
chr17:41242960:- chr17:43090943:-
Intron 12 Splice Site c.4185+1G>T 5 - Definitely pathogenic >0.99 Haffty (2009) Ann Oncol 20; 1653
BIC nucleic acid #: 4304+1G>T
chr17:41242960:- chr17:43090943:-
Exon 12 Deletion c.4185_4185+3del4 5 - Definitely pathogenic >0.99 Thomassen (2012) Breast Cancer Res Treat 132; 1009
BIC nucleic acid #: 4304_4304+3del4
chr17:41242958-41242961 (-) chr17:43090941-43090944 (-)
Intron 12 Splice Site c.4186-1G>A 5 - Definitely pathogenic >0.99 Xiong (2015) Science 347: 1254806 [Additional report]
BIC nucleic acid #: 4305-1G>A
chr17:41234593:- chr17:43082576:-
Exon 13 Nonsense c.4186C>T p.Q1396* 5 - Definitely pathogenic >0.99 Cilotti (2002) J Exp Clin Cancer Res 21; 137
BIC nucleic acid #: 4305C>T
chr17:41234592:- chr17:43082575:-
Exon 13 Deletion c.4195_4196delAC 5 - Definitely pathogenic >0.99 Diez (2003) Hum Mutat 22; 301
BIC nucleic acid #: 4314_4315delAC
chr17:41234582-41234583 (-) chr17:43082565-43082566 (-)
Exon 13 Nonsense c.4201C>T p.Q1401* 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 4320C>T
chr17:41234577:- chr17:43082560:-
Exon 13 Missense c.4204C>T p.H1402Y 1 - Not pathogenic or of no clinical significance 0.00012 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 4323C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1.95
  • Pathology:
  • Sum Family: 0.851
  • Co-occurrence: 0.00355
  • Functional assay:
  • Products of LRs:
chr17:41234574:- chr17:43082557:-
Exon 13 Deletion c.4210delC 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 4329delC
chr17:41234568 (-) chr17:43082551 (-)
Exon 13 Nonsense c.4222C>T p.Q1408* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 4341C>T
chr17:41234556:- chr17:43082539:-
Exon 13 Nonsense c.4228G>T p.E1410* 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 4347G>T
chr17:41234550:- chr17:43082533:-
Exon 13 Deletion c.4228delG 5 - Definitely pathogenic >0.99 Yang (2015) PLOS ONE 10,
BIC nucleic acid #: 4347delG
chr17:41234550 (-) chr17:43082533 (-)
Exon 13 Deletion c.4224_4231del8 5 - Definitely pathogenic >0.99 Darooei (2017) TUM BIOL 39,
BIC nucleic acid #: 4343_4350del8
chr17:41234547-41234554 (-) chr17:43082530-43082537 (-)
Exon 13 Nonsense c.4237G>T p.E1413* 5 - Definitely pathogenic >0.99 Melichar (2012) Acta Oncol 51; 136
BIC nucleic acid #: 4356G>T
chr17:41234541:- chr17:43082524:-
Exon 13 Insertion c.4240dupC 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 4359dupC
chr17:41234537-41234538 (-) chr17:43082520-43082521 (-)
Exon 13 Insertion c.4242_4243insT 5 - Definitely pathogenic >0.99 Purnomosari (2007) Breast Cancer Res Treat 106; 297
BIC nucleic acid #: 4361_4362insT
chr17:41234535-41234536 (-) chr17:43082518-43082519 (-)
Exon 13 Nonsense c.4243G>T p.E1415* 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 4362G>T
chr17:41234535:- chr17:43082518:-
Exon 13 Deletion c.4243delG 5 - Definitely pathogenic >0.99 Konecny (2011) Breast Cancer Res Treat 126; 119
BIC nucleic acid #: 4362delG
chr17:41234535 (-) chr17:43082518 (-)
Exon 13 Deletion c.4250delT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 4369delT
chr17:41234528 (-) chr17:43082511 (-)
Exon 13 Deletion c.4251_4252delGT 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 4370_4371delGT
chr17:41234526-41234527 (-) chr17:43082509-43082510 (-)
Exon 13 Nonsense c.4253T>G p.L1418* 5 - Definitely pathogenic >0.99 Keshavarzi (2012) Fam Cancer 11; 57
BIC nucleic acid #: 4372T>G
chr17:41234525:- chr17:43082508:-
Exon 13 Deletion c.4253delT 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 4372delT
chr17:41234525 (-) chr17:43082508 (-)
Exon 13 Missense c.4255G>C p.E1419Q 1 - Not pathogenic or of no clinical significance 0.00073 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 4374G>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.13
  • Combined: 0.13
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00427
  • Co-occurrence: 1.15
  • Functional assay:
  • Products of LRs:
chr17:41234523:- chr17:43082506:-
Exon 13 Nonsense c.4258C>T p.Q1420* 5 - Definitely pathogenic >0.99 Thirthagiri (2008) Breast Cancer Res 10; R59
BIC nucleic acid #: 4377C>T
chr17:41234520:- chr17:43082503:-
Exon 13 Insertion c.4266dupG 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 4385dupG
chr17:41234511-41234512 (-) chr17:43082494-43082495 (-)
Exon 13 Nonsense c.4270C>T p.Q1424* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 4389C>T
chr17:41234508:- chr17:43082491:-
Exon 13 Nonsense c.4287C>A p.Y1429* 5 - Definitely pathogenic >0.99 Cortesi (2002) J Exp Clin Cancer Res 21; 131
BIC nucleic acid #: 4406C>A
chr17:41234491:- chr17:43082474:-
Exon 13 Insertion c.4289dupC 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 4408dupC
chr17:41234488-41234489 (-) chr17:43082471-43082472 (-)
Exon 13 Insertion c.4300dupA 5 - Definitely pathogenic >0.99 Arnold (1999) Hum Mutat 14; 333
BIC nucleic acid #: 4419dupA
chr17:41234477-41234478 (-) chr17:43082460-43082461 (-)
Exon 13 Deletion c.4307_4308delCT 5 - Definitely pathogenic >0.99 de Juan (2009) Breast Cancer Res Treat 115; 405
BIC nucleic acid #: 4426_4427delCT
chr17:41234470-41234471 (-) chr17:43082453-43082454 (-)
Exon 13 Insertion c.4321dupG 5 - Definitely pathogenic >0.99 Pal (2005) Cancer 104; 2807
BIC nucleic acid #: 4440dupG
chr17:41234456-41234457 (-) chr17:43082439-43082440 (-)
Exon 13 Nonsense c.4327C>T p.R1443* 5 - Definitely pathogenic >0.99 Castilla (1994) Nat Genet 8; 387
BIC nucleic acid #: 4446C>T
chr17:41234451:- chr17:43082434:-
Exon 13 Deletion c.4331_4332delAT 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 4450_4451delAT
chr17:41234446-41234447 (-) chr17:43082429-43082430 (-)
Exon 13 Insertion c.4335_4338dup4 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 4454_4457dup4
chr17:41234439-41234440 (-) chr17:43082422-43082423 (-)
Exon 13 Nonsense c.4339C>T p.Q1447* 5 - Definitely pathogenic >0.99 Konecny (2007) Neoplasma 54; 137
BIC nucleic acid #: 4458C>T
chr17:41234439:- chr17:43082422:-
Exon 13 Nonsense c.4349C>A p.S1450* 5 - Definitely pathogenic >0.99 Mannan (2016) JHG 61, 515
BIC nucleic acid #: 4468C>A
chr17:41234429:- chr17:43082412:-
Intron 13 Splice Site c.4357+1G>A 5 - Definitely pathogenic >0.99 Pal (2004) Cancer Epidemiol Biomarkers Prev 13; 1794 Thomassen (2012) Breast Cancer Res Treat 132: 1009 [Functional characterisation]
BIC nucleic acid #: 4476+1G>A
chr17:41234420:- chr17:43082403:-
Intron 13 Splice Site c.4357+1G>C 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 4476+1G>C
chr17:41234420:- chr17:43082403:-
Intron 13 Splice Site c.4357+1G>T 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967 Menéndez (2012) Breast Cancer Res Treat 132: 979 [Functional characterisation]
BIC nucleic acid #: 4476+1G>T
chr17:41234420:- chr17:43082403:-
Intron 13 Deletion c.4357+1delG 5 - Definitely pathogenic >0.99 Musolino (2005) Tumori 91; 505 Menéndez (2012) Breast Cancer Res Treat 132: 979 [Functional characterisation]
BIC nucleic acid #: 4476+1delG
chr17:41234420 (-) chr17:43082403 (-)
Intron 13 Insertion c.4357+1dupG Intron 13 5 - Definitely pathogenic >0.99 Houdayer (2012) HUM MUT 33, 1228
BIC nucleic acid #: 4476+1dupG
chr17:41234419-41234420 (-) chr17:43082402-43082403 (-)
Intron 13 Splice Site c.4357+2T>C 5 - Definitely pathogenic >0.99 Saxena (2002) Hum Mutat 20; 473
BIC nucleic acid #: 4476+2T>C
chr17:41234419:- chr17:43082402:-
Intron 13 Splice Site c.4357+2T>G 5 - Definitely pathogenic >0.99 Ratajska (2015) J Appl Genet 56, 193
BIC nucleic acid #: 4476+2T>G
chr17:41234419:- chr17:43082402:-
Intron 13 Splice Site c.4357+6T>C 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 4476+6T>C
chr17:41234415:- chr17:43082398:-
Exon 14 Nonsense c.4372C>T p.Q1458* 5 - Definitely pathogenic >0.99 Rostagno (2003) J Hum Genet 48; 362
BIC nucleic acid #: 4491C>T
chr17:41228617:- chr17:43076600:-
Exon 14 Nonsense c.4375A>T p.K1459* 5 - Definitely pathogenic >0.99 de Juan Jimenez (2013) FAM CAN 12, 767
BIC nucleic acid #: 4494A>T
chr17:41228614:- chr17:43076597:-
Exon 14 Deletion c.4373_4389del17 5 - Definitely pathogenic >0.99 Hegde (2000) Hum Mutat 16; 422
BIC nucleic acid #: 4492_4508del17
chr17:41228600-41228616 (-) chr17:43076583-43076599 (-)
Exon 14 Nonsense c.4389C>A p.Y1463* 5 - Definitely pathogenic >0.99 Smith (2012) Proc Biol Sci 279; 1389
BIC nucleic acid #: 4508C>A
chr17:41228600:- chr17:43076583:-
Exon 14 Nonsense c.4389C>G p.Y1463* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 4508C>G
chr17:41228600:- chr17:43076583:-
Exon 14 Deletion c.4391delC 5 - Definitely pathogenic >0.99 Yazici (2000) Br J Cancer 83; 737
BIC nucleic acid #: 4510delC
chr17:41228598 (-) chr17:43076581 (-)
Exon 14 Insertion c.4391dupC 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 4510dupC
chr17:41228597-41228598 (-) chr17:43076580-43076581 (-)
Exon 14 Indel c.4391_4393delCTAinsTT 5 - Definitely pathogenic >0.99 Rostagno (2003) J Hum Genet 48; 362
BIC nucleic acid #: 4510_4512delCTAinsTT
chr17:41228596-41228598 (-) chr17:43076579-43076581 (-)
Exon 14 Deletion c.4393delA 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 4512delA
chr17:41228596 (-) chr17:43076579 (-)
Exon 14 Nonsense c.4399C>T p.Q1467* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 4518C>T
chr17:41228590:- chr17:43076573:-
Exon 14 Deletion c.4401delG 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 4520delG
chr17:41228588 (-) chr17:43076571 (-)
Exon 14 Missense c.4402A>C p.N1468H 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 #: 4521A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.912
  • Co-occurrence: 0.00324
  • Functional assay:
  • Products of LRs:
chr17:41228587:- chr17:43076570:-
Exon 14 Indel c.4416_4417delTTinsG 5 - Definitely pathogenic >0.99 Hogervorst (2003) Cancer Res 63; 1449
BIC nucleic acid #: 4535_4536delTTinsG
chr17:41228572-41228573 (-) chr17:43076555-43076556 (-)
Exon 14 Deletion c.4435delG 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 4554delG
chr17:41228554 (-) chr17:43076537 (-)
Exon 14 Deletion c.4447delA 5 - Definitely pathogenic >0.99 Tommasi (2005) Mutat Res 578; 395
BIC nucleic acid #: 4566delA
chr17:41228542 (-) chr17:43076525 (-)
Exon 14 Deletion c.4452_4455del4 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 4571_4574del4
chr17:41228534-41228537 (-) chr17:43076517-43076520 (-)
Exon 14 Deletion c.4456delA 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 4575delA
chr17:41228533 (-) chr17:43076516 (-)
Exon 14 Deletion c.4457delG 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 4576delG
chr17:41228532 (-) chr17:43076515 (-)
Exon 14 Nonsense c.4480G>T p.E1494* 5 - Definitely pathogenic >0.99 Eerola (2005) Breast Cancer Res 7; R93
BIC nucleic acid #: 4599G>T
chr17:41228509:- chr17:43076492:-
Exon 14 Deletion c.4482_4483delAA 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 4601_4602delAA
chr17:41228506-41228507 (-) chr17:43076489-43076490 (-)
Exon 14 Splice Site c.4484G>A 5 - Definitely pathogenic >0.99 Houdayer (2012) Hum Mutat 33, 1228
BIC nucleic acid #: 4603G>T
chr17:41228505:- chr17:43076488:-
Exon 14 Splice Site c.4484G>T 5 - Definitely pathogenic >0.99 Ozcelik (1999) Hum Mutat 14; 540 Colombo (2013) PLoS One 8: e57173 [Functional characterisation]
BIC nucleic acid #: 4603G>T
chr17:41228505:- chr17:43076488:-
Intron 14 Splice Site c.4484+1G>A 5 - Definitely pathogenic >0.99 Perkowska (2003) Hum Mutat 21; 553 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 4603+1G>A
chr17:41228504:- chr17:43076487:-
Intron 14 Splice Site c.4484+1G>T 5 - Definitely pathogenic >0.99 Menéndez (2012) Breast Cancer Res Treat 132; 979
BIC nucleic acid #: 4603+1G>T
chr17:41228504:- chr17:43076487:-
Intron 14 Deletion c.4484+1delG 5 - Definitely pathogenic >0.99 Yazici (2000) Br J Cancer 83; 737
BIC nucleic acid #: 4603+1delG
chr17:41228504 (-) chr17:43076487 (-)
Exon 14 Insertion c.4479_4484+2dup 4 - Likely pathogenic 0.988 Whiley PJ et al., Hum Mutat, 32:678-687, 2011 Vallee MP et al., Hum Mutat, 37: 627-639, 2016
BIC nucleic acid #: 4598_4603+2dup
PRIOR
  • Position & Align-GVGD:
  • Splicing: 0.97
  • Combined: 0.97
Observational data
  • Segregation: 0.95
  • Pathology: 2.58
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Products of LRs: 2.45
chr17:41228502-41228503 (-) chr17:43076485-43076486 (-)
Intron 14 Splice Site c.4485-2A>G 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 4604-2A>G
chr17:41226540:- chr17:43074523:-
Intron 14 Splice Site c.4485-1G>A 5 - Definitely pathogenic >0.99 Liede (2002) Am J Hum Genet 71; 595
BIC nucleic acid #: 4604-1G>A
chr17:41226539:- chr17:43074522:-
Intron 14 Splice Site c.4485-1G>T 5 - Definitely pathogenic >0.99 Fleury (2015) Genes Cancer 6, 378
BIC nucleic acid #: 4604-1G>T
chr17:41226539:- chr17:43074522:-
Exon 15 Nonsense c.4487C>G p.S1496* 5 - Definitely pathogenic >0.99 S/NI consortium (2003) Br J Cancer 88; 1256
BIC nucleic acid #: 4606C>G
chr17:41226536:- chr17:43074519:-
Exon 15 Nonsense c.4503C>A p.C1501* 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 4622C>A
chr17:41226520:- chr17:43074503:-
Exon 15 Nonsense c.4508C>A p.S1503* 5 - Definitely pathogenic >0.99 Liede (2002) Am J Hum Genet 71; 595
BIC nucleic acid #: 4627C>A
chr17:41226515:- chr17:43074498:-
Exon 15 Deletion c.4516delG 5 - Definitely pathogenic >0.99 Janavicius (2009) Breast Cancer Res Treat 117; 467
BIC nucleic acid #: 4635delG
chr17:41226507 (-) chr17:43074490 (-)
Exon 15 Nonsense c.4523G>A p.W1508* 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 4642G>A
chr17:41226500:- chr17:43074483:-
Exon 15 Nonsense c.4524G>A p.W1508* 5 - Definitely pathogenic >0.99 Laitman (2010) Breast Cancer Res Treat 127; 489
BIC nucleic acid #: 4643G>A
chr17:41226499:- chr17:43074482:-
Exon 15 Deletion c.4528delA 5 - Definitely pathogenic >0.99 Tommasi (2008) Mutat Res 644; 64
BIC nucleic acid #: 4647delA
chr17:41226495 (-) chr17:43074478 (-)
Exon 15 Deletion c.4533_4534delCA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 4652_4653delCA
chr17:41226489-41226490 (-) chr17:43074472-43074473 (-)
Exon 15 Missense c.4535G>T p.S1512I 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 #: 4654G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Products of LRs:
chr17:41226488:- chr17:43074471:-
Exon 15 Insertion c.4537dupT 5 - Definitely pathogenic >0.99 Santonocito (2017) BREAST 36, 74
BIC nucleic acid #: 4656dupT
chr17:41226485-41226486 (-) chr17:43074468-43074469 (-)
Exon 15 Nonsense c.4552C>T p.Q1518* 5 - Definitely pathogenic >0.99 de Juan Jimenez (2013) FAM CAN 12, 767
BIC nucleic acid #: 4671C>T
chr17:41226471:- chr17:43074454:-
Exon 15 Deletion c.4570_4573del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4689_4692del4
chr17:41226450-41226453 (-) chr17:43074433-43074436 (-)
Exon 15 Deletion c.4574_4575delAA 5 - Definitely pathogenic >0.99 Greenman (1998) Genes Chromosomes Cancer 21; 244
BIC nucleic acid #: 4693_4694delAA
chr17:41226448-41226449 (-) chr17:43074431-43074432 (-)
Exon 15 Deletion c.4575_4585del11 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 4694_4704del11
chr17:41226438-41226448 (-) chr17:43074421-43074431 (-)
Exon 15 Insertion c.4595_4596insCT 5 - Definitely pathogenic >0.99 Serova (1997) Am J Hum Genet 60; 486
BIC nucleic acid #: 4714_4715insCT
chr17:41226427-41226428 (-) chr17:43074410-43074411 (-)
Exon 15 Deletion c.4597_4598delGA 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 4716_4717delGA
chr17:41226425-41226426 (-) chr17:43074408-43074409 (-)
Exon 15 Missense c.4600G>A p.V1534M 1 - Not pathogenic or of no clinical significance 0.0001 Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 4719G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.0086
  • Pathology: 0.139
  • Sum Family:
  • Co-occurrence: 4.02
  • Functional assay:
  • Products of LRs:
chr17:41226423:- chr17:43074406:-
Exon 15 Nonsense c.4603G>T p.E1535* 5 - Definitely pathogenic >0.99 Schorge (2001) Gynecol Oncol 83; 383
BIC nucleic acid #: 4722G>T
chr17:41226420:- chr17:43074403:-
Exon 15 Nonsense c.4609C>T p.Q1537* 5 - Definitely pathogenic >0.99 Ozcelik (2003) J Med Genet 40; e91
BIC nucleic acid #: 4728C>T
chr17:41226414:- chr17:43074397:-
Exon 15 Insertion c.4611_4612insG 5 - Definitely pathogenic >0.99 Donenberg (2011) Breast Cancer Res Treat 125; 591
BIC nucleic acid #: 4730_4731insG
chr17:41226411-41226412 (-) chr17:43074394-43074395 (-)
Exon 15 Nonsense c.4612C>T p.Q1538* 5 - Definitely pathogenic >0.99 Tartaglini (1998) Hum Mutat S1; S163
BIC nucleic acid #: 4731C>T
chr17:41226411:- chr17:43074394:-
Exon 15 Indel c.4617_4618delGGinsTT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4736_4737delGGinsTT
chr17:41226405-41226406 (-) chr17:43074388-43074389 (-)
Exon 15 Nonsense c.4621G>T p.E1541* 5 - Definitely pathogenic >0.99 Futreal (1994) Science 266; 120
BIC nucleic acid #: 4740G>T
chr17:41226402:- chr17:43074385:-
Exon 15 Deletion c.4625_4626delCT 5 - Definitely pathogenic >0.99 Evans (2003) J Med Genet 40; e107
BIC nucleic acid #: 4744_4745delCT
chr17:41226397-41226398 (-) chr17:43074380-43074381 (-)
Exon 15 Missense c.4636G>A p.D1546N 1 - Not pathogenic or of no clinical significance 0.00011 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 #: 4755G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 5.60E-03
  • Functional assay:
  • Products of LRs:
chr17:41226387:- chr17:43074370:-
Exon 15 Missense c.4636G>T p.D1546Y 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 #: 4755G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.275
  • Co-occurrence: 0.00339
  • Functional assay:
  • Products of LRs:
chr17:41226387:- chr17:43074370:-
Exon 15 Insertion c.4655dupA p.Y1552* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 4774dupA
chr17:41226367-41226368 (-) chr17:43074350-43074351 (-)
Exon 15 Nonsense c.4656C>G p.Y1552* 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 4775C>G
chr17:41226367:- chr17:43074350:-
Exon 15 Deletion c.4655_4658del4 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 4774_4777del4
chr17:41226365-41226368 (-) chr17:43074348-43074351 (-)
Exon 15 Deletion c.4661delC 5 - Definitely pathogenic >0.99 Soegaard (2008) CCR 14, 3761
BIC nucleic acid #: 4780delC
chr17:41226362 (-) chr17:43074345 (-)
Exon 15 Deletion c.4663delA 5 - Definitely pathogenic >0.99 Alemar (2016) CG 209, 417
BIC nucleic acid #: 4782delA
chr17:41226360 (-) chr17:43074343 (-)
Exon 15 Deletion c.4646_4665del20 5 - Definitely pathogenic >0.99 Dobricic (2010) Cancer Genet Cytogenet 202; 27
BIC nucleic acid #: 4765_4784del20
chr17:41226358-41226377 (-) chr17:43074341-43074360 (-)
Exon 15 Deletion c.4665delG 5 - Definitely pathogenic >0.99 Rashid (2016) BMC C 16,
BIC nucleic acid #: 4784delG
chr17:41226358 (-) chr17:43074341 (-)
Exon 15 Splice Site c.4675G>A 5 - Definitely pathogenic >0.99 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 4794G>A
chr17:41226348:- chr17:43074331:-
Exon 15 Splice Site c.4675G>C 5 - Definitely pathogenic >0.99 Abkevich (2004) J Med Genet 41; 492 Davy (2017) Eur J Hum Genet 25:1147
BIC nucleic acid #: 4794G>C
chr17:41226348:- chr17:43074331:-
Intron 15 Splice Site c.4675+1G>A 5 - Definitely pathogenic >0.99 Adem (2003) Cancer 97; 1 Lindor (2012) Hum Mutat 33: 8 [Additional report]
BIC nucleic acid #: 4794+1G>A
chr17:41226347:- chr17:43074330:-
Intron 15 Splice Site c.4675+1G>T 5 - Definitely pathogenic >0.99 LaDuca (2017) PLoS One 12:
BIC nucleic acid #: 4794+1G>T
chr17:41226347:- chr17:43074330:-
Intron 15 Splice Site c.4676-2A>G 5 - Definitely pathogenic >0.99 Tung (2015) Cancer 121:25
BIC nucleic acid #: 4795-2A>G
chr17:41223257:- chr17:43071240:-
Intron 15 Splice Site c.4676-1G>A 5 - Definitely pathogenic >0.99 Couch (2015) J Clin Oncol 33:304
BIC nucleic acid #: 4795-1G>A
chr17:41223256:- chr17:43071239:-
Exon 16 Nonsense c.4678G>T p.G1560* 5 - Definitely pathogenic >0.99 Schrader (2012) Obstet Gynecol 120; 235
BIC nucleic acid #: 4797G>T
chr17:41223253:- chr17:43071236:-
Exon 16 Deletion c.4681delA 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 4800delA
chr17:41223250 (-) chr17:43071233 (-)
Exon 16 Deletion c.4684_4685delCC 5 - Definitely pathogenic >0.99 Hansen (2010) Breast Cancer Res Treat epub; epub
BIC nucleic acid #: 4803_4804delCC
chr17:41223246-41223247 (-) chr17:43071229-43071230 (-)
Exon 16 Insertion c.4688dupA 5 - Definitely pathogenic >0.99 Loizidou (2017) CLIN GENET 91, 611
BIC nucleic acid #: 4807dupA
chr17:41223242-41223243 (-) chr17:43071225-43071226 (-)
Exon 16 Nonsense c.4689C>A p.Y1563* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4808C>A
chr17:41223242:- chr17:43071225:-
Exon 16 Nonsense c.4689C>G p.Y1563* 5 - Definitely pathogenic >0.99 Serova (1996) Am J Hum Genet 58; 42
BIC nucleic acid #: 4808C>G
chr17:41223242:- chr17:43071225:-
Exon 16 Missense c.4691T>C p.L1564P 1 - Not pathogenic or of no clinical significance 0.00007 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 #: 4810T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 3.30E-03
  • Functional assay:
  • Products of LRs:
chr17:41223240:- chr17:43071223:-
Exon 16 Insertion c.4695dupA 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 4814dupA
chr17:41223235-41223236 (-) chr17:43071218-43071219 (-)
Exon 16 Deletion c.4712delT 5 - Definitely pathogenic >0.99 Zhong (2016) PLOS ONE 11, e0156789
BIC nucleic acid #: 4831delT
chr17:41223219 (-) chr17:43071202 (-)
Exon 16 Deletion c.4712_4716del5 5 - Definitely pathogenic >0.99 Silva (2014) BMC MG 15, 55
BIC nucleic acid #: 4831_4835del5
chr17:41223215-41223219 (-) chr17:43071198-43071202 (-)
Exon 16 Deletion c.4724delC 5 - Definitely pathogenic >0.99 Calo (2006) Breast Cancer Res Treat 96; 97
BIC nucleic acid #: 4843delC
chr17:41223207 (-) chr17:43071190 (-)
Exon 16 Deletion c.4736_4739del4 5 - Definitely pathogenic >0.99 Alemar (2016) CG 209, 417
BIC nucleic acid #: 4855_4858del4
chr17:41223192-41223195 (-) chr17:43071175-43071178 (-)
Exon 16 Nonsense c.4741G>T p.E1581* 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 4860G>T
chr17:41223190:- chr17:43071173:-
Exon 16 Deletion c.4745delA 5 - Definitely pathogenic >0.99 Moller (2007) Eur J Cancer 43; 1713
BIC nucleic acid #: 4864delA
chr17:41223186 (-) chr17:43071169 (-)
Exon 16 Deletion c.4754_4755delCA 5 - Definitely pathogenic >0.99 Caligo (1996) Oncogene 13; 1483
BIC nucleic acid #: 4873_4874delCA
chr17:41223176-41223177 (-) chr17:43071159-43071160 (-)
Exon 16 Insertion c.4757dupA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4876dupA
chr17:41223173-41223174 (-) chr17:43071156-43071157 (-)
Exon 16 Nonsense c.4760C>G p.S1587* 5 - Definitely pathogenic >0.99 Robertson (2012) Br J Cancer 106; 1234
BIC nucleic acid #: 4879C>G
chr17:41223171:- chr17:43071154:-
Exon 16 Deletion c.4764delT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 4883delT
chr17:41223167 (-) chr17:43071150 (-)
Exon 16 Nonsense c.4787C>A p.S1596* 5 - Definitely pathogenic >0.99 Trujillano (2015) JMD 17, 162
BIC nucleic acid #: 4906C>A
chr17:41223144:- chr17:43071127:-
Exon 16 Deletion c.4780_4793del14 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 4899_4912del14
chr17:41223138-41223151 (-) chr17:43071121-43071134 (-)
Exon 16 Insertion c.4799dupT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 4918dupT
chr17:41223131-41223132 (-) chr17:43071114-43071115 (-)
Exon 16 Nonsense c.4801A>T p.K1601* 5 - Definitely pathogenic >0.99 Ang (2007) Cancer Epidemiol Biomarkers Prev 16; 2276
BIC nucleic acid #: 4920A>T
chr17:41223130:- chr17:43071113:-
Exon 16 Deletion c.4806delT 5 - Definitely pathogenic >0.99 Watson (2014) HUM MUT 35, 434
BIC nucleic acid #: 4925delT
chr17:41223125 (-) chr17:43071108 (-)
Exon 16 Nonsense c.4810C>T p.Q1604* 5 - Definitely pathogenic >0.99 Laplace-Marieze (1997) Hum Mutat 9; 474
BIC nucleic acid #: 4929C>T
chr17:41223121:- chr17:43071104:-
Exon 16 Nonsense c.4834C>T p.Q1612* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 4953C>T
chr17:41223097:- chr17:43071080:-
Exon 16 Insertion c.4836dupG 5 - Definitely pathogenic >0.99 Hedau (2004) Breast Cancer Res Treat 88; 177
BIC nucleic acid #: 4955dupG
chr17:41223094-41223095 (-) chr17:43071077-43071078 (-)
Exon 16 Missense c.4837A>G p.S1613G 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 #: 4956A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: <1e-10
  • Functional assay:
  • Products of LRs:
chr17:41223094:- chr17:43071077:-
Exon 16 Deletion c.4837delA 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 4956delA
chr17:41223094 (-) chr17:43071077 (-)
Exon 16 Indel c.4837_4838delAGinsGCC 5 - Definitely pathogenic >0.99 Mannan (2016) JHG 61, 515
BIC nucleic acid #: 4956_4957delAGinsGCC
chr17:41223093-41223094 (-) chr17:43071076-43071077 (-)
Exon 16 Insertion c.4838_4839insC 5 - Definitely pathogenic >0.99 Reeves (2004) Int J Cancer 110; 677
BIC nucleic acid #: 4957_4958insC
chr17:41223092-41223093 (-) chr17:43071075-43071076 (-)
Exon 16 Missense c.4840C>T p.P1614S 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 #: 4959C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.0955
  • Pathology:
  • Sum Family: 0.309
  • Co-occurrence: 7.59E-08
  • Functional assay:
  • Products of LRs:
chr17:41223091:- chr17:43071074:-
Exon 16 Deletion c.4862delA 5 - Definitely pathogenic >0.99 Rashid (2016) BMC C 16,
BIC nucleic acid #: 4981delA
chr17:41223069 (-) chr17:43071052 (-)
Exon 16 Missense c.4868C>G p.A1623G 5 - Definitely pathogenic >0.99 Walker LC et al., Hum Mutat, 31:E1484-1505, 2010 Vallee MP et al., Hum Mutat, 37: 627-639, 2016
BIC nucleic acid #: 4987C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.64
  • Combined: 0.64
Observational data
  • Segregation: 27.72
  • Pathology: 1.23
  • Sum Family: 10.47
  • Co-occurrence: 1.09
  • Functional assay:
  • Products of LRs: 389.1
chr17:41223063:- chr17:43071046:-
Exon 16 Deletion c.4877delA 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 4996delA
chr17:41223054 (-) chr17:43071037 (-)
Exon 16 Missense c.4883T>C p.M1628T 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 #: 5002T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family:
  • Co-occurrence: 1.60E-04
  • Functional assay:
  • Products of LRs:
chr17:41223048:- chr17:43071031:-
Exon 16 Deletion c.4873_4885del13 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 4992_5004del13
chr17:41223046-41223058 (-) chr17:43071029-43071041 (-)
Exon 16 Deletion c.4887delA 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 5006delA
chr17:41223044 (-) chr17:43071027 (-)
Exon 16 Deletion c.4891delA 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 5010delA
chr17:41223040 (-) chr17:43071023 (-)
Exon 16 Nonsense c.4903G>T p.E1635* 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 5022G>T
chr17:41223028:- chr17:43071011:-
Exon 16 Insertion c.4903dupG 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 5022dupG
chr17:41223027-41223028 (-) chr17:43071010-43071011 (-)
Exon 16 Deletion c.4905_4906delGA 5 - Definitely pathogenic >0.99 Miramar (2008) Breast Cancer Res Treat 112; 353
BIC nucleic acid #: 5024_5025delGA
chr17:41223025-41223026 (-) chr17:43071008-43071009 (-)
Exon 16 Missense c.4910C>T p.P1637L 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 #: 5029C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.347
  • Pathology:
  • Sum Family: 0.0148
  • Co-occurrence: 0.398
  • Functional assay:
  • Products of LRs:
chr17:41223021:- chr17:43071004:-
Exon 16 Deletion c.4910delC 5 - Definitely pathogenic >0.99 Zhi (2002) Hum Mutat 20; 474
BIC nucleic acid #: 5029delC
chr17:41223021 (-) chr17:43071004 (-)
Exon 16 Nonsense c.4930G>T p.E1644* 5 - Definitely pathogenic >0.99 Martin (2009) Breast Cancer Res Treat 113; 393
BIC nucleic acid #: 5049G>T
chr17:41223001:- chr17:43070984:-
Exon 16 Insertion c.4932_4933dupAA 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 5051_5052dupAA
chr17:41222997-41222998 (-) chr17:43070980-43070981 (-)
Exon 16 Deletion c.4936delG 5 - Definitely pathogenic >0.99 King (2001) JAMA 286; 2251
BIC nucleic acid #: 5055delG
chr17:41222995 (-) chr17:43070978 (-)
Exon 16 Nonsense c.4942A>T p.K1648* 5 - Definitely pathogenic >0.99 Laraqui (2013) Int J Med Sci 10; 60
BIC nucleic acid #: 5061A>T
chr17:41222989:- chr17:43070972:-
Exon 16 Deletion c.4945delA 5 - Definitely pathogenic >0.99 Gayther (1999) Am J Hum Genet 65; 1021
BIC nucleic acid #: 5064delA
chr17:41222986 (-) chr17:43070969 (-)
Exon 16 Indel c.4945_4947delAGAins4 5 - Definitely pathogenic >0.99 Bonadona (2005) Genes Chromosomes Cancer 43; 404
BIC nucleic acid #: 5064delAGAins4
chr17:41222984-41222986 (-) chr17:43070967-43070969 (-)
Exon 16 Missense c.4955T>C p.M1652T 1 - Not pathogenic or of no clinical significance 0.00011 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5074T>C
PRIOR
  • Position & Align-GVGD: 0.29
  • Splicing: 0.01
  • Combined: 0.29
Observational data
  • Segregation: 0.012
  • Pathology:
  • Sum Family: 0.0182
  • Co-occurrence: 1.23
  • Functional assay:
  • Products of LRs:
chr17:41222976:- chr17:43070959:-
Exon 16 Missense c.4956G>A p.M1652I 1 - Not pathogenic or of no clinical significance 0.00001 Osorio A et al., Hum Mutat, 28:477-485, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5075G>A
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.01
  • Combined: 0.03
Observational data
  • Segregation:
  • Pathology: 0.00268
  • Sum Family: 0.18
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
chr17:41222975:- chr17:43070958:-
Exon 16 Deletion c.4964_4979del16 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 5083_5098del16
chr17:41222952-41222967 (-) chr17:43070935-43070950 (-)
Exon 16 Deletion c.4963_4981del19 5 - Definitely pathogenic >0.99 Santarosa (1998) Int J Cancer 78; 581
BIC nucleic acid #: 5082_5100del19
chr17:41222950-41222968 (-) chr17:43070933-43070951 (-)
Exon 16 Nonsense c.4981G>T p.E1661* 5 - Definitely pathogenic >0.99 Choi (2004) J Clin Oncol 22; 1638
BIC nucleic acid #: 5100G>T
chr17:41222950:- chr17:43070933:-
Exon 16 Deletion c.4964_4982del19 5 - Definitely pathogenic >0.99 Couch (1997) N Engl J Med 336; 1409 Quaresima (2008) Clin Cancer Res 14: 6797 [Functional characterisation]
BIC nucleic acid #: 5083_5101del19
chr17:41222949-41222967 (-) chr17:43070932-43070950 (-)
Exon 16 Deletion c.4966_4984del19 5 - Definitely pathogenic >0.99 Castilla (1994) Nat Genet 8; 387
BIC nucleic acid #: 5085_5103del19
chr17:41222947-41222965 (-) chr17:43070930-43070948 (-)
Exon 16 Missense c.4985T>C p.F1662S 1 - Not pathogenic or of no clinical significance 0.00021 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007 Tavtigian SV et al., Hum Mutat, 29(11):1342-1354, 2008
BIC nucleic acid #: 5104T>C
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.04
  • Combined: 0.04
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 1.44
  • Co-occurrence: 0.00355
  • Functional assay:
  • Products of LRs: 0.00511
chr17:41222946:- chr17:43070929:-
Intron 16 Splice Site c.4986+1G>A 5 - Definitely pathogenic >0.99 Li (2014) Eur J Med Res 19, 35
BIC nucleic acid #: 5105+1G>A
chr17:41222944:- chr17:43070927:-
Intron 16 Splice Site c.4986+1G>T 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315 Colombo (2013) PLoS One 8: e57173 [Functional characterisation]
BIC nucleic acid #: 5105+1G>T
chr17:41222944:- chr17:43070927:-
Intron 16 Splice Site c.4986+2T>A 5 - Definitely pathogenic >0.99 Trujillano (2015) J Mol Diagn 17, 162
BIC nucleic acid #: 5105+2T>A
chr17:41222943:- chr17:43070926:-
Intron 16 Splice Site c.4986+2T>C 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 5105+2T>C
chr17:41222943:- chr17:43070926:-
Intron 16 Splice Site c.4986+3G>C 5 - Definitely pathogenic >0.99 Adem (2003) Cancer 97; 1 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 5105+3G>C
chr17:41222942:- chr17:43070925:-
Intron 16 Splice Site c.4986+4A>C 5 - Definitely pathogenic >0.99 Meisel (2014) Ann Oncol 25, 2372
BIC nucleic acid #: 5105+4A>C
chr17:41222941:- chr17:43070924:-
Intron 16 Splice Site c.4986+4A>G 5 - Definitely pathogenic >0.99 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 5105+4A>G
chr17:41222941:- chr17:43070924:-
Intron 16 Splice Site c.4986+4A>T 5 - Definitely pathogenic >0.99 Konecny (2011) Breast Cancer Res Treat 126, 119
BIC nucleic acid #: 4986+4A>T
chr17:41222941:- chr17:43070924:-
Intron 16 Splice Site c.4986+5G>A 5 - Definitely pathogenic >0.99 Vreeswijk (2009) Hum Mutat 30; 107 Colombo (2013) PLoS One 8: e57173 [Functional characterisation]
BIC nucleic acid #: 5105+5G>A
chr17:41222940:- chr17:43070923:-
Intron 16 Splice Site c.4986+5G>C 5 - Definitely pathogenic >0.99 Azzollini (2016) Eur J Intern Med 32:65
BIC nucleic acid #: 5105+5G>C
chr17:41222940:- chr17:43070923:-
Intron 16 Splice Site c.4986+6T>C 5 - Definitely pathogenic >0.99 Scholl (1999) Am J Med Genet 85; 113
BIC nucleic acid #: 5105+6T>C
chr17:41222939:- chr17:43070922:-
Intron 16 Splice Site c.4986+6T>G 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700 Chen (2006) Hum Mutat 27; 427
BIC nucleic acid #: 5105+6T>G
chr17:41222939:- chr17:43070922:-
Intron 16 Splice Site c.4987-5T>A 5 - Definitely pathogenic >0.99 Bonnet (2008) J Med Genet 45; 438
BIC nucleic acid #: 5106-5T>A
chr17:41219717:- chr17:43067700:-
Intron 16 Splice Site c.4987-3C>G 5 - Definitely pathogenic >0.99 Brandão (2011) Breast Cancer Res Treat 129; 971 Brandão (2012) Breast Cancer Res Treat 131: 723 [Functional characterisation]
BIC nucleic acid #: 5106-3C>G
chr17:41219715:- chr17:43067698:-
Intron 16 Splice Site c.4987-2A>G 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259 Thomassen (2012) Breast Cancer Res Treat 132: 1009 [Functional characterisation]
BIC nucleic acid #: 5106-2A>G
chr17:41219714:- chr17:43067697:-
Intron 16 Splice Site c.4987-1G>A 5 - Definitely pathogenic >0.99 Colombo (2013) PLoS One 8; e57173
BIC nucleic acid #: 5106-1G>A
chr17:41219713:- chr17:43067696:-
Exon 17 Missense c.4991T>C p.L1664P 1 - Not pathogenic or of no clinical significance 0 Whiley PJ, et al., PLoS One, 9:e86836, 2014 Tavtigian SV et al., Hum Mutat, 29(11):1342-1354, 2008
BIC nucleic acid #: 5110T>C
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.02
  • Combined: 0.03
Observational data
  • Segregation: 0.01
  • Pathology:
  • Sum Family: 0.03
  • Co-occurrence: 1.29
  • Functional assay:
  • Products of LRs: 0.000387
chr17:41219708:- chr17:43067691:-
Exon 17 Nonsense c.4998C>A p.Y1666* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5117C>A
chr17:41219701:- chr17:43067684:-
Exon 17 Nonsense c.4999A>T p.K1667* 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 5118A>T
chr17:41219700:- chr17:43067683:-
Exon 17 Deletion c.5005delG 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 5124delG
chr17:41219694 (-) chr17:43067677 (-)
Exon 17 Insertion c.4995_5007dup13 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 5114_5126dup13
chr17:41219691-41219692 (-) chr17:43067674-43067675 (-)
Exon 17 Insertion c.5027dupT 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 5146dupT
chr17:41219671-41219672 (-) chr17:43067654-43067655 (-)
Exon 17 Deletion c.5030delC 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5149delC
chr17:41219669 (-) chr17:43067652 (-)
Exon 17 Deletion c.5030_5033del4 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 5149_5152del4
chr17:41219666-41219669 (-) chr17:43067649-43067652 (-)
Exon 17 Deletion c.5035delC p.L1679* 5 - Definitely pathogenic >0.99 Manguoglu (2010) Cancer Genet Cytogenet 203; 230
BIC nucleic acid #: 5154delC
chr17:41219664 (-) chr17:43067647 (-)
Exon 17 Deletion c.5026_5036del11 5 - Definitely pathogenic >0.99 Vehmanen (1997) Hum Mol Genet 6; 2309
BIC nucleic acid #: 5145_5155del11
chr17:41219663-41219673 (-) chr17:43067646-43067656 (-)
Exon 17 Deletion c.5035_5039del5 5 - Definitely pathogenic >0.99 Musolino (2005) Tumori 91; 505
BIC nucleic acid #: 5154_5158del5
chr17:41219660-41219664 (-) chr17:43067643-43067647 (-)
Exon 17 Deletion c.5040delT 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 5159delT
chr17:41219659 (-) chr17:43067642 (-)
Exon 17 Insertion c.5038_5042dup5 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5157_5161dup5
chr17:41219656-41219657 (-) chr17:43067639-43067640 (-)
Exon 17 Missense c.5044G>A p.E1682K 1 - Not pathogenic or of no clinical significance 0.0001 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5163G>A
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.01
  • Combined: 0.03
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 1
  • Co-occurrence: 0.00316
  • Functional assay:
  • Products of LRs:
chr17:41219655:- chr17:43067638:-
Exon 17 Nonsense c.5047G>T p.E1683* 5 - Definitely pathogenic >0.99 Borg (1999) Dis Markers 15; 79
BIC nucleic acid #: 5166G>T
chr17:41219652:- chr17:43067635:-
Exon 17 Missense c.5053A>G p.T1685A 5 - Definitely pathogenic 0.9952 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5172A>G
PRIOR
  • Position & Align-GVGD: 0.66
  • Splicing: 0.01
  • Combined: 0.66
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 100
  • Co-occurrence: 1.07
  • Functional assay:
  • Products of LRs:
chr17:41219646:- chr17:43067629:-
Exon 17 Missense c.5054C>T p.T1685I 5 - Definitely pathogenic 0.9983 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5173C>T
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.01
  • Combined: 0.81
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 125.89
  • Co-occurrence: 1.1
  • Functional assay:
  • Products of LRs:
chr17:41219645:- chr17:43067628:-
Exon 17 Deletion c.5059delG 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 5178delG
chr17:41219640 (-) chr17:43067623 (-)
Exon 17 Deletion c.5062_5064delGTT p.V1688del 5 - Definitely pathogenic >0.99 Montagna (1996) Cancer Res 56; 5466 Vallon-Christersson (2001) Hum Mol Genet 10: 353 [Functional characterisation]
BIC nucleic acid #: 5181_5183delGTT
chr17:41219635-41219637 (-) chr17:43067618-43067620 (-)
Exon 17 Insertion c.5065dupA 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 5184dupA
chr17:41219633-41219634 (-) chr17:43067616-43067617 (-)
Exon 17 Missense c.5066T>G p