BRCA1 Database

  • Genebank sequence BRCA1: NG-005905.2 was used as reference sequence. cDNA number 1 is the “A” of the start codon. 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.
  • Frameshift is documented by the original amino acid followed by the codon number and “fs” (e.g. Arg55 fs)
  • Posterior Probability of “>0.99” indicates that the score was not calculated but estimated based on literature findings only.
  • 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
Exon 2 Insertion c.32_33insC 5 - Definitely pathogenic >0.99 Szabo (1995) Hum Mol Genet 4; 1811
BIC nucleic acid #: 151_152insC
Exon 2 Nonsense c.34C>T p.Q12* 5 - Definitely pathogenic >0.99 Adem (2003) Cancer 97; 1
BIC nucleic acid #: 153C>T
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
Exon 2 Deletion c.52_64del13 5 - Definitely pathogenic >0.99 de Juan Jimenez (2013) FAM CAN 12, 767
BIC nucleic acid #: 171_183del13
Exon 2 Missense c.53T>C p.M18T 4 - Likely pathogenic 0.9840 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:
Exon 2 Nonsense c.55C>T p.Q19* 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 174C>T
Exon 2 Deletion c.61delA 5 - Definitely pathogenic >0.99 Thirthagiri (2008) Breast Cancer Res 10; R59
BIC nucleic acid #: 180delA
Exon 2 Insertion c.62dupT 5 - Definitely pathogenic >0.99 Yassaee (2002) Breast Cancer Res 4; R6
BIC nucleic acid #: 181dupT
Exon 2 Deletion c.64_65delTT 5 - Definitely pathogenic >0.99 Fries (2002) Mil Med 167; 99
BIC nucleic acid #: 183_184delTT
Exon 2 Missense c.65T>C p.L22S 5 - Definitely pathogenic 0.9940 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:
Exon 2 Deletion c.68_69delAG 5 - Definitely pathogenic >0.99 Simard (1994) Nat Genet 8; 392 O'Donnell (2010) Gynecol Oncol 116: 262 [Functional characterisation]
BIC nucleic acid #: 187_188delAG
Exon 2 Insertion c.66dupA 5 - Definitely pathogenic >0.99 Matsushima (1995) Hum Mol Genet 4; 1953
BIC nucleic acid #: 185dupA
Exon 2 Insertion c.66_67insC 5 - Definitely pathogenic >0.99 Majdak (2005) Eur J Cancer 41; 143
BIC nucleic acid #: 185_186insC
Exon 2 Insertion c.68dupA 5 - Definitely pathogenic >0.99 Dong (1998) Hum Genet 103; 154
BIC nucleic acid #: 187dupA
Exon 2 Insertion c.68_69dupAG 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 187_188dupAG
Exon 2 Deletion c.68_69delAG 5 - Definitely pathogenic >0.99 Struewing (1995) Am J Hum Genet 57; 1 O'Donnell (2008) In Vitro Cell Dev Biol Anim 44: 357 [Functional characterisation]
BIC nucleic acid #: 187_188delAG
Exon 2 Deletion c.70_80del11 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 189_199del11
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
Exon 2 Deletion c.72_73delTC 5 - Definitely pathogenic >0.99 Takahashi (1995) Cancer Res 55; 2998
BIC nucleic acid #: 191_192delTC
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
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
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
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
Intron 2 Deletion c.81-2delA 5 - Definitely pathogenic >0.99 Martin (2004) Cancer Genet Cytogenet 150; 173
BIC nucleic acid #: 200-2delA
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
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
Intron 2 Splice Site c.81-1G>A 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 200-1G>A
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
Exon 3 Deletion c.83_84delTG 5 - Definitely pathogenic >0.99 Uhrhammer (2008) Int J Med Sci 5; 197
BIC nucleic acid #: 202_203delTG
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
Exon 3 Nonsense c.89T>A p.L30* 5 - Definitely pathogenic >0.99 John (2007) JAMA 298; 2869
BIC nucleic acid #: 208T>A
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:
Exon 3 Deletion c.112_113delAA 5 - Definitely pathogenic >0.99 Friedman (1995) Am J Hum Genet 57; 1284
BIC nucleic acid #: 231_232delAA
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:
Exon 3 Deletion c.117_118delTG 5 - Definitely pathogenic >0.99 Osorio (2000) Br J Cancer 82; 1266
BIC nucleic acid #: 236_237delTG
Exon 3 Deletion c.122delA 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 241delA
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
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:
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:
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
Exon 3 Indel c.133_134+3del5insT 5 - Definitely pathogenic >0.99 Brose (2004) Genet Test 8; 133
BIC nucleic acid #: 252_253+3del5insT
Exon 3 Deletion c.133_134delAA 5 - Definitely pathogenic >0.99 Couch (1997) N Engl J Med 336; 1409
BIC nucleic acid #: 252_253delAA
Exon 3 Missense c.133A>C p.K45Q 1 - Not pathogenic or of no clinical significance 0.00080 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:
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
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
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
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
Intron 3 Deletion c.134+2delT 5 - Definitely pathogenic >0.99 Toh (2008) PLoS One 3; e2024
BIC nucleic acid #: 253+2delT
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
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
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
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
Exon 5 Deletion c.143delT 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 262delT
Exon 5 Deletion c.144delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 263delG
Exon 5 Deletion c.160delC 5 - Definitely pathogenic >0.99 Evans (2003) J Med Genet 40; e107
BIC nucleic acid #: 279delC
Exon 5 Deletion c.178_179delCA 5 - Definitely pathogenic >0.99 Vaidyanathan (2009) J Biosci 34; 415
BIC nucleic acid #: 297_298delCA
Exon 5 Nonsense c.178C>T p.Q60* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 297C>T
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:
Exon 5 Deletion c.182_183delGT 5 - Definitely pathogenic >0.99 Papi (2009) Breast Cancer Res Treat 117; 497
BIC nucleic acid #: 301_302delGT
Exon 5 Deletion c.185delC 5 - Definitely pathogenic >0.99 Holter (2015) JCO 33, 3124
BIC nucleic acid #: 304delC
Exon 5 Nonsense c.188T>A p.L63* 5 - Definitely pathogenic >0.99 Inoue (1995) Cancer Res 55; 3521
BIC nucleic acid #: 307T>A
Exon 5 Insertion c.189dupA 5 - Definitely pathogenic >0.99 Gallardo (2006) Breast Cancer Res Treat 95; 81
BIC nucleic acid #: 308dupA
Exon 5 Deletion c.190_193del4 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 309_312del4
Exon 5 Deletion c.195delG 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 314delG
Exon 5 Missense c.199G>T p.D67Y 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 5 Splice Site c.211A>G 5 - Definitely pathogenic >0.99 Vega (2001) Hum Mutat 17; 520 Men‚ndez (2012) Breast Cancer Res Treat 132: 979 [Functional characterisation]
BIC nucleic acid #: 330A>G
Exon 5 Deletion c.211delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 330delA
Exon 5 Insertion c.211dupA 5 - Definitely pathogenic >0.99 Troudi (2007) J Hum Genet 52; 915
BIC nucleic acid #: 330dupA
Exon 5 Splice Site c.212G>A 5 - Definitely pathogenic >0.99 Houdayer (2012) Hum Mutat 33, 1228
BIC nucleic acid #: 331G>A
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
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
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
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
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
Intron 5 Splice Site c.213-12A>G 5 - Definitely pathogenic >0.99 Hoffman (1998) Am J Med Genet 80; 140 Men‚ndez (2012) Breast Cancer Res Treat 132: 979 [Functional characterisation]
BIC nucleic acid #: 332-12A>G
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
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
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
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
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
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
Exon 6 Deletion c.232delA 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 351delA
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
Exon 6 Deletion c.246delT 5 - Definitely pathogenic >0.99 Smith (2013) Hum Mutat 34; 1026
BIC nucleic acid #: 365delT
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
Exon 6 Insertion c.282_288dup7 p.Thr97Alafs*2 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 401_407dup7
Exon 6 Deletion c.290_291delCA 5 - Definitely pathogenic >0.99 Bergman (2005) Fam Cancer 4; 89
BIC nucleic acid #: 409_410delCA
Intron 6 Deletion c.302-2delA 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 421-2delA
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
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
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
Intron 6 Splice Site c.302-1G>A 5 - Definitely pathogenic >0.99 Osorio (2003) Eur J Hum Genet 11; 489 Guti‚rrez-Enr¡quez (2009) Breast Cancer Res Treat 117: 461 [Functional characterisation]
BIC nucleic acid #: 421-1G>A
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
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
Exon 7 Missense c.314A>G p.Y105C 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 7 Deletion c.329_330delAG 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 448_449delAG
Exon 7 Insertion c.329dupA 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 448dupA
Exon 7 Deletion c.331delG 5 - Definitely pathogenic >0.99 Konstantopoulou (2014) CLIN GENET 85, 36
BIC nucleic acid #: 450delG
Exon 7 Deletion c.342_343delTC p.P115* 5 - Definitely pathogenic >0.99 Negura (2010) Fam Cancer 9; 519
BIC nucleic acid #: 461_462delTC
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:
Exon 7 Insertion c.375_376insT 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 494_495insT
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:
Exon 7 Nonsense c.390C>A p.Y130* 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 509C>A
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:
Exon 7 Deletion c.399_400delTG 5 - Definitely pathogenic >0.99 Steinmann (2001) Br J Cancer 85; 850
BIC nucleic acid #: 518_519delTG
Exon 7 Deletion c.405_408del4 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 524_527del4
Exon 7 Deletion c.406delA 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 525delA
Exon 7 Insertion c.406dupA 5 - Definitely pathogenic >0.99 Werness (2000) J Natl Cancer Inst 92; 1088
BIC nucleic acid #: 525dupA
Exon 7 Missense c.425C>A p.P142H 1 - Not pathogenic or of no clinical significance 0.00000 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:
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:
Exon 7 Nonsense c.427G>T p.E143* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 546G>T
Exon 7 Insertion c.431dupA 5 - Definitely pathogenic >0.99 Feliubadaló (2013) Eur J Hum Genet 21; 864
BIC nucleic acid #: 550dupA
Exon 7 Insertion c.431dupA 5 - Definitely pathogenic >0.99 Feliubadalo (2013) EJHG 21, 864
BIC nucleic acid #: 550dupA
Exon 7 Deletion c.431delA 5 - Definitely pathogenic >0.99 Rashid (2006) Int J Cancer 119; 2832
BIC nucleic acid #: 550delA
Exon 7 Deletion c.437_440del4 5 - Definitely pathogenic >0.99 Musolino (2007) Breast 16; 280
BIC nucleic acid #: 556_559del4
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
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
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
Exon 8 Deletion c.456_457delCA 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 575_576delCA
Exon 8 Deletion c.457_458delAG 5 - Definitely pathogenic >0.99 Stegel (2011) BMC Med Genet 12; 9
BIC nucleic acid #: 576_577delAG
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:
Exon 8 Nonsense c.463C>T p.Q155* 5 - Definitely pathogenic >0.99 Hu (2003) Hum Mutat 22; 104
BIC nucleic acid #: 582C>T
Exon 8 Deletion c.465delA 5 - Definitely pathogenic >0.99 Dodova (2015) BMC C 15, 523
BIC nucleic acid #: 584delA
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
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
Exon 8 Deletion c.485_486delTG 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 604_605delTG
Exon 8 Deletion c.488delG 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 607delG
Exon 8 Deletion c.493_494delCT 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 612_613delCT
Exon 8 Insertion c.494dupT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 613dupT
Exon 8 Nonsense c.505C>T p.Q169* 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 624C>T
Exon 8 Nonsense c.514C>T p.Q172* 5 - Definitely pathogenic >0.99 Khoo (2000) Hum Mutat 16; 88
BIC nucleic acid #: 633C>T
Exon 8 Deletion c.514delC 5 - Definitely pathogenic >0.99 van Orsouw (1999) J Med Genet 36; 747
BIC nucleic acid #: 633delC
Exon 8 Deletion c.520delC 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 639delC
Exon 8 Indel c.527_538del12insGG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 646_657del12insGG
Exon 8 Deletion c.536delA 5 - Definitely pathogenic >0.99 Machado (2007) J Clin Oncol 25; 2027
BIC nucleic acid #: 655delA
Exon 8 Missense c.536A>G p.Y179C 1 - Not pathogenic or of no clinical significance 0.00000 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:
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
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
Exon 9 Deletion c.548delG 5 - Definitely pathogenic >0.99 Li (2006) Int J Gynecol Cancer 16S1; 172
BIC nucleic acid #: 667delG
Exon 9 Missense c.557C>A p.S186Y 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 9 Insertion c.569_570ins4 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 688_699ins4
Exon 9 Missense c.571G>A p.V191I 1 - Not pathogenic or of no clinical significance 0.00000 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:
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
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
Exon 10 Deletion c.594_597del4 5 - Definitely pathogenic >0.99 Sawyer (2015) CANCER DIS 5, 135
BIC nucleic acid #: 713_716del4
Exon 10 Nonsense c.616C>T p.Q206* 5 - Definitely pathogenic >0.99 Hu (2003) Hum Mutat 22; 104
BIC nucleic acid #: 735C>T
Exon 10 Insertion c.624_625ins20 5 - Definitely pathogenic >0.99 Patmasiriwat (2002) Hum Mutat 20; 230
BIC nucleic acid #: 743_744ins20
Exon 10 Deletion c.667_668delAA 5 - Definitely pathogenic >0.99 Eerola (2005) Breast Cancer Res 7; R93
BIC nucleic acid #: 786_787delAA
Intron 10 Deletion c.670+1delG 5 - Definitely pathogenic >0.99 Steffensen (2014) EJHG 22, 1362
BIC nucleic acid #: 789+1delG
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
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
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
Exon 11 Deletion c.676delT 5 - Definitely pathogenic >0.99 Serova (1997) Am J Hum Genet 60; 486
BIC nucleic acid #: 795delT
Exon 11 Insertion c.677_678insC 5 - Definitely pathogenic >0.99 Xiaoman (1999) Chin Med Sci J 14; 195
BIC nucleic acid #: 796_797insC
Exon 11 Nonsense c.678T>A p.C226* 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 797T>A
Exon 11 Deletion c.697_698delGT 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 816_817delGT
Exon 11 Missense c.736T>G p.L246V 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.737delT 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol 121; 353
BIC nucleic acid #: 856delT
Exon 11 Insertion c.742dupA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 861dupA
Exon 11 Deletion c.744delC 5 - Definitely pathogenic >0.99 Schneegans (2012) Fam Cancer 11; 181
BIC nucleic acid #: 863delC
Exon 11 Deletion c.745delA 5 - Definitely pathogenic >0.99 Wong (2015) PLOS ONE 10, e0134408
BIC nucleic acid #: 864delA
Exon 11 Deletion c.754delC 5 - Definitely pathogenic >0.99 Yang (2015) PLOS ONE 10,
BIC nucleic acid #: 873delC
Exon 11 Nonsense c.763G>T p.E255* 5 - Definitely pathogenic >0.99 Sinilnikova (2006) Fam Cancer 5; 15
BIC nucleic acid #: 882G>T
Exon 11 Insertion c.768_769insA 5 - Definitely pathogenic >0.99 Al-Mulla (2009) J Clin Pathol 62; 350
BIC nucleic acid #: 887_888insA
Exon 11 Insertion c.768_769insAG 5 - Definitely pathogenic >0.99 Al-Mulla (2009) J Clin Pathol 62; 350
BIC nucleic acid #: 887_888insAG
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
Exon 11 Deletion c.791_794del4 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 910_913del4
Exon 11 Deletion c.794_795delCT 5 - Definitely pathogenic >0.99 Borg (1999) Dis Markers 15; 79
BIC nucleic acid #: 913_914delCT
Exon 11 Deletion c.798_799delTT 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 917_918delTT
Exon 11 Insertion c.799dupT 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 918dupT
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
Exon 11 Deletion c.803delA 5 - Definitely pathogenic >0.99 Villarreal-Garza (2015) CANCER 121, 372
BIC nucleic acid #: 922delA
Exon 11 Insertion c.814_824dup11 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 933_943dup11
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
Exon 11 Insertion c.827_828insT 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 946_947insT
Exon 11 Insertion c.832dupA 5 - Definitely pathogenic >0.99 Lara (2012) BR 45, 117
BIC nucleic acid #: 951dupA
Exon 11 Deletion c.835delC 5 - Definitely pathogenic >0.99 Zuradelli (2010) Breast Cancer Res Treat 124; 251
BIC nucleic acid #: 954delC
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:
Exon 11 Deletion c.843_846del4 5 - Definitely pathogenic >0.99 Wagner (1998) Int J Cancer 77; 354
BIC nucleic acid #: 962_965del4
Exon 11 Insertion c.844_850dup7 5 - Definitely pathogenic >0.99 Ozcelik (2003) J Med Genet 40; e91
BIC nucleic acid #: 963_969dup7
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
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
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:
Exon 11 Deletion c.895_896delGT 5 - Definitely pathogenic >0.99 Couch (1997) N Engl J Med 336; 1409
BIC nucleic acid #: 1014_1015delGT
Exon 11 Insertion c.903_904insC 5 - Definitely pathogenic >0.99 Garcia-Patino (1998) J Clin Oncol 16; 115
BIC nucleic acid #: 1022_1023insC
Exon 11 Deletion c.909delA 5 - Definitely pathogenic >0.99 Kumar (2002) Cancer Biol Ther 1; 18
BIC nucleic acid #: 1028delA
Exon 11 Indel c.922_924delAGCinsT p.S308* 5 - Definitely pathogenic >0.99 Seo (2004) Hum Mutat 24; 350
BIC nucleic acid #: 1041_1043delAGCinsT
Exon 11 Deletion c.924delC 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 1043delC
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
Exon 11 Deletion c.927delA 5 - Definitely pathogenic >0.99 Gadzicki (2009) Cancer Genet Cytogenet 189; 105
BIC nucleic acid #: 1046delA
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
Exon 11 Deletion c.929delA 5 - Definitely pathogenic >0.99 Friedman (1995) Am J Hum Genet 57; 1284
BIC nucleic acid #: 1048delA
Exon 11 Deletion c.930delG 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 1049delG
Exon 11 Deletion c.933delT 5 - Definitely pathogenic >0.99 Juwle (2012) Med Oncol 29; 3272
BIC nucleic acid #: 1052delT
Exon 11 Insertion c.958_959insAC 5 - Definitely pathogenic >0.99 de Juan Jimenez (2013) FAM CAN 12, 767
BIC nucleic acid #: 1077_1078insAC
Exon 11 Deletion c.959_960delGA 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 1078_1079delGA
Exon 11 Deletion c.961delT 5 - Definitely pathogenic >0.99 Khoo (2000) Hum Mutat 16; 88
BIC nucleic acid #: 1080delT
Exon 11 Nonsense c.962G>A p.W321* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 1081G>A
Exon 11 Deletion c.964delG 5 - Definitely pathogenic >0.99 Smith (2001) Gynecol Oncol 83; 586
BIC nucleic acid #: 1083delG
Exon 11 Deletion c.980_981delCA 5 - Definitely pathogenic >0.99 Palomba (2009) BMC Cancer 9; 245
BIC nucleic acid #: 1099_1100delCA
Exon 11 Deletion c.981_982delAT 5 - Definitely pathogenic >0.99 Fitzgerald (1996) N Engl J Med 334; 143
BIC nucleic acid #: 1100_1101delAT
Exon 11 Deletion c.985_986delAA 5 - Definitely pathogenic >0.99 Sauvan (2000) Hum Mutat 17; 154
BIC nucleic acid #: 1104_1105delAA
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:
Exon 11 Missense c.1001C>T p.P334L 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Insertion c.1008dupA 5 - Definitely pathogenic >0.99 Reeves (2004) Int J Cancer 110; 677
BIC nucleic acid #: 1127dupA
Exon 11 Nonsense c.1012A>T p.K338* 5 - Definitely pathogenic >0.99 Alharbi (2005) Genome Res 15; 967
BIC nucleic acid #: 1131A>T
Exon 11 Insertion c.1016dupA 5 - Definitely pathogenic >0.99 Simard (1994) Nat Genet 8; 392
BIC nucleic acid #: 1135dupA
Exon 11 Deletion c.1016delA 5 - Definitely pathogenic >0.99 Hogervorst (1995) Nat Genet 10; 208
BIC nucleic acid #: 1135delA
Exon 11 Deletion c.1018delG 5 - Definitely pathogenic >0.99 Eccles (1998) Br J Cancer 77; 2199
BIC nucleic acid #: 1137delG
Exon 11 Deletion c.1039_1040delCT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 1158_1159delCT
Exon 11 Deletion c.1040delT 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 1159delT
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
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
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
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
Exon 11 Missense c.1067A>G p.Q356R 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.1067delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1186delA
Exon 11 Deletion c.1068_1077del10 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 1187_1196del10
Exon 11 Deletion c.1072delC 5 - Definitely pathogenic >0.99 Claes (1999) Hum Mutat 13; 256
BIC nucleic acid #: 1191delC
Exon 11 Insertion c.1080_1081insA 5 - Definitely pathogenic >0.99 Ozdag (2000) Eur J Cancer 36; 2076
BIC nucleic acid #: 1199_1200insA
Exon 11 Deletion c.1082_1092del11 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 1201_1211del11
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
Exon 11 Deletion c.1086_1087delGA 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 1205_1206delGA
Exon 11 Deletion c.1088delA 5 - Definitely pathogenic >0.99 Montagna (1996) Cancer Res 56; 5466
BIC nucleic acid #: 1207delA
Exon 11 Deletion c.1091delC 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 1210delC
Exon 11 Insertion c.1099dupA 5 - Definitely pathogenic >0.99 Alharbi (2005) Genome Res 15; 967
BIC nucleic acid #: 1218dupA
Exon 11 Insertion c.1100dupC 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 1219dupC
Exon 11 Missense c.1105G>A p.D369N 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.1112delC 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 1231delC
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
Exon 11 Nonsense c.1116G>A p.W372* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 1235G>A
Exon 11 Deletion c.1120delA 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 1239delA
Exon 11 Indel c.1121_1123delCACinsT 5 - Definitely pathogenic >0.99 Diez (2003) Hum Mutat 22; 301
BIC nucleic acid #: 1240_1242delCACinsT
Exon 11 Deletion c.1121delC 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 1240delC
Exon 11 Deletion c.1122_1123delAC 5 - Definitely pathogenic >0.99 Diez (1999) Int J Cancer 83; 465
BIC nucleic acid #: 1241_1242delAC
Exon 11 Deletion c.1127delA 5 - Definitely pathogenic >0.99 Arnold (1999) Hum Mutat 14; 333
BIC nucleic acid #: 1246delA
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
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
Exon 11 Insertion c.1152dupG 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 1271dupG
Exon 11 Deletion c.1157_1170del14 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1276_1289del14
Exon 11 Deletion c.1158_1159delTT 5 - Definitely pathogenic >0.99 Sauvan (2000) Hum Mutat 17; 154
BIC nucleic acid #: 1277_1278delTT
Exon 11 Insertion c.1159dupT 5 - Definitely pathogenic >0.99 Yamashita (1999) Breast Cancer Res Treat 58; 11
BIC nucleic acid #: 1278dupT
Exon 11 Deletion c.1166delG 5 - Definitely pathogenic >0.99 Konecny (2007) Neoplasma 54; 137
BIC nucleic acid #: 1285delG
Exon 11 Deletion c.1175_1178del4 5 - Definitely pathogenic >0.99 Martin (2001) J Clin Oncol 19; 2247
BIC nucleic acid #: 1294_1297del4
Exon 11 Deletion c.1188delT 5 - Definitely pathogenic >0.99 Gajalakshmi (2007) Breast Cancer Res Treat 101; 3
BIC nucleic acid #: 1307delT
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
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
Exon 11 Deletion c.1204delG 5 - Definitely pathogenic >0.99 Struewing (1995) Am J Hum Genet 57; 1
BIC nucleic acid #: 1323delG
Exon 11 Insertion c.1208_1209dupCT 5 - Definitely pathogenic >0.99 Stavropoulou (2013) PLoS One 8; e58182
BIC nucleic acid #: 1327_1328dupCT
Exon 11 Nonsense c.1214C>G p.S405* 5 - Definitely pathogenic >0.99 Yang (2015) PLOS ONE 10, e0125571
BIC nucleic acid #: 1333C>G
Exon 11 Deletion c.1217delA 5 - Definitely pathogenic >0.99 Garcia-Patino (1998) J Clin Oncol 16; 115
BIC nucleic acid #: 1336delA
Exon 11 Deletion c.1224delA 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 1343delA
Exon 11 Deletion c.1232_1233delAT 5 - Definitely pathogenic >0.99 Schrader (2012) Obstet Gynecol 120; 235
BIC nucleic acid #: 1351_1352delAT
Exon 11 Insertion c.1241dupA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 1360dupA
Exon 11 Nonsense c.1252G>T p.E418* 5 - Definitely pathogenic >0.99 Levanat (2012) Gene 498; 169
BIC nucleic acid #: 1371G>T
Exon 11 Deletion c.1255delG 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 1374delG
Exon 11 Insertion c.1265dupA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 1384dupA
Exon 11 Insertion c.1265_1266dupAT 5 - Definitely pathogenic >0.99 Ahmad (2012) Clin Genet 82; 594
BIC nucleic acid #: 1384_1385dupAT
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
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
Exon 11 Insertion c.1287dupA 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 1406dupA
Exon 11 Insertion c.1292dupT 5 - Definitely pathogenic >0.99 Hogervorst (1995) Nat Genet 10; 208
BIC nucleic acid #: 1411dupT
Exon 11 Deletion c.1292delT 5 - Definitely pathogenic >0.99 Michils (2012) J Mol Diagn 14; 623
BIC nucleic acid #: 1411delT
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
Exon 11 Indel c.1293_1295delACTinsGA 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 1412_1414delACTinsGA
Exon 11 Deletion c.1297delG 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol epub; epub
BIC nucleic acid #: 1416delG
Exon 11 Deletion c.1319delT 5 - Definitely pathogenic >0.99 Hogervorst (1995) Nat Genet 10; 208
BIC nucleic acid #: 1438delT
Exon 11 Insertion c.1319dupT 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 1438dupT
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
Exon 11 Nonsense c.1327A>T p.K443* 5 - Definitely pathogenic >0.99 Silva (2014) BMC MG 15,
BIC nucleic acid #: 1446A>T
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
Exon 11 Deletion c.1335_1336delAA 5 - Definitely pathogenic >0.99 Kadouri (2004) Int J Cancer 108; 399
BIC nucleic acid #: 1454_1455delAA
Exon 11 Insertion c.1339dupG 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 1458dupG
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
Exon 11 Deletion c.1360_1361delAG 5 - Definitely pathogenic >0.99 van Orsouw (1999) J Med Genet 36; 747
BIC nucleic acid #: 1479_1480delAG
Exon 11 Deletion c.1361delG 5 - Definitely pathogenic >0.99 Lin (2016) Oncotarget : [Additional report]
BIC nucleic acid #: 1480delG
Exon 11 Insertion c.1363_1364insGA 5 - Definitely pathogenic >0.99 Essioux (1998) Am J Med Genet 79; 175
BIC nucleic acid #: 1482_1483insGA
Exon 11 Deletion c.1371delA 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 1490delA
Exon 11 Deletion c.1374delC 5 - Definitely pathogenic >0.99 Reeves (2004) Int J Cancer 110; 677
BIC nucleic acid #: 1493delC
Exon 11 Insertion c.1380dupA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 1499dupA
Exon 11 Insertion c.1384_1393dup10 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 1503_1512dup10
Exon 11 Deletion c.1386delG 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 1505delG
Exon 11 Insertion c.1386dupG 5 - Definitely pathogenic >0.99 King (2001) JAMA 286; 2251
BIC nucleic acid #: 1505dupG
Exon 11 Indel c.1387_1390del4ins5 5 - Definitely pathogenic >0.99 Liede (2002) Hum Mutat 19; 460
BIC nucleic acid #: 1506_1509del4ins5
Exon 11 Insertion c.1390dupA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1509dupA
Exon 11 Insertion c.1390_1391insG 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 1509_1510insG
Exon 11 Deletion c.1390delA 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 1509delA
Exon 11 Deletion c.1392delC 5 - Definitely pathogenic >0.99 Sng (2000) Br J Cancer 82; 538
BIC nucleic acid #: 1511delC
Exon 11 Nonsense c.1399A>T p.K467* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 1518A>T
Exon 11 Deletion c.1403delA 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 1522delA
Exon 11 Deletion c.1405delG 5 - Definitely pathogenic >0.99 Garcia-Patino (1998) J Clin Oncol 16; 115
BIC nucleic acid #: 1524delG
Exon 11 Missense c.1418A>G p.N473S 1 - Not pathogenic or of no clinical significance 0.00000 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:
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
Exon 11 Deletion c.1428_1437del10 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 1547_1556del10
Exon 11 Insertion c.1439dupA 5 - Definitely pathogenic >0.99 van Orsouw (1999) J Med Genet 36; 747
BIC nucleic acid #: 1558dupA
Exon 11 Deletion c.1444delA 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 1563delA
Exon 11 Deletion c.1444_1447del4 5 - Definitely pathogenic >0.99 Emi (1998) Jpn J Cancer Res 89; 12
BIC nucleic acid #: 1563_1566del4
Exon 11 Nonsense c.1450G>T p.G484* 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 1569G>T
Exon 11 Missense c.1456T>C p.F486L 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Nonsense c.1465G>T p.E489* 5 - Definitely pathogenic >0.99 Zhi (2002) Hum Mutat 20; 474
BIC nucleic acid #: 1584G>T
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
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
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
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:
Exon 11 Missense c.1487G>A p.R496H 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.1492delC 5 - Definitely pathogenic >0.99 Garvin (1996) J Med Genet 33; 721
BIC nucleic acid #: 1611delC
Exon 11 Deletion c.1499delA 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol epub; epub
BIC nucleic acid #: 1618delA
Exon 11 Insertion c.1499_1508dup10 5 - Definitely pathogenic >0.99 Yang (2011) JAMA 306; 1557
BIC nucleic acid #: 1618_1627dup10
Exon 11 Deletion c.1504_1518del15 5 - Definitely pathogenic >0.99 Smith (2001) Gynecol Oncol 83; 586
BIC nucleic acid #: 1623_1637del15
Exon 11 Deletion c.1504_1507del4 5 - Definitely pathogenic >0.99 Solano (2012) SpringerPlus 1;
BIC nucleic acid #: 1623_1626del4
Exon 11 Deletion c.1504_1508del5 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 1623_1627del5
Exon 11 Deletion c.1505delT 5 - Definitely pathogenic >0.99 Larsen (2013) PLOS ONE 8, e64268
BIC nucleic acid #: 1624delT
Exon 11 Nonsense c.1505T>G p.L502* 5 - Definitely pathogenic >0.99 Stavropoulou (2013) PLoS One 8; e58182
BIC nucleic acid #: 1624T>G
Exon 11 Deletion c.1506_1510del5 5 - Definitely pathogenic >0.99 Gao (2000) Hum Genet 107; 186
BIC nucleic acid #: 1625_1629del5
Exon 11 Nonsense c.1507A>T p.K503* 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 1626A>T
Exon 11 Deletion c.1510delC 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 1629delC
Exon 11 Insertion c.1511dupG p. K505* 5 - Definitely pathogenic >0.99 Son (2012) Breast Cancer Res Treat 133; 1143
BIC nucleic acid #: 1630dupG
Exon 11 Missense c.1511G>A p.R504H 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Nonsense c.1513A>T p.K505* 5 - Definitely pathogenic >0.99 Palmieri (2002) Ann Oncol 13; 1899
BIC nucleic acid #: 1632A>T
Exon 11 Insertion c.1513_1514insT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 1632_1633insT
Exon 11 Deletion c.1517_1521del5 5 - Definitely pathogenic >0.99 Choi (2004) J Clin Oncol 22; 1638
BIC nucleic acid #: 1636_1640del5
Exon 11 Nonsense c.1519A>T p.R507* 5 - Definitely pathogenic >0.99 Palomba (2009) BMC Cancer 9; 245
BIC nucleic acid #: 1638A>T
Exon 11 Deletion c.1523delC 5 - Definitely pathogenic >0.99 Cecener (2014) CANCER INV 32, 375
BIC nucleic acid #: 1642delC
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
Exon 11 Deletion c.1530delA 5 - Definitely pathogenic >0.99 S/NI Consortium (2003) Br J Cancer 88; 1256
BIC nucleic acid #: 1649delA
Exon 11 Deletion c.1551delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1670delT
Exon 11 Deletion c.1556delA 5 - Definitely pathogenic >0.99 Johannsson (1996) Am J Hum Genet 58; 441
BIC nucleic acid #: 1675delA
Exon 11 Indel c.1561_1564del4ins4 p.A521* 5 - Definitely pathogenic >0.99 Hendrickson (2002) Clin Genet 61; 317
BIC nucleic acid #: 1680_1683del4ins4
Exon 11 Insertion c.1565_1566insC 5 - Definitely pathogenic >0.99 Garcia-Patino (1998) Acta Oncol 37; 299
BIC nucleic acid #: 1684_1685insC
Exon 11 Deletion c.1570delG 5 - Definitely pathogenic >0.99 Esteban Cardeñosa (2008) Breast Cancer Res Treat 112; 69
BIC nucleic acid #: 1689delG
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
Exon 11 Deletion c.1583_1589del7 5 - Definitely pathogenic >0.99 Moslehi (1998) Am J Med Genet 78; 386
BIC nucleic acid #: 1702_1708del7
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
Exon 11 Nonsense c.1600C>T p.Q534* 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 1719C>T
Exon 11 Insertion c.1601dupA 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 1720dupA
Exon 11 Deletion c.1608_1611del4 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 1727_1730del4
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
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
Exon 11 Nonsense c.1621C>T p.Q541* 5 - Definitely pathogenic >0.99 Dong (1998) Hum Genet 103; 154
BIC nucleic acid #: 1740C>T
Exon 11 Insertion c.1623dupG 5 - Definitely pathogenic >0.99 Gao (2000) Hum Genet 107; 192
BIC nucleic acid #: 1742dupG
Exon 11 Nonsense c.1630C>T p.Q544* 5 - Definitely pathogenic >0.99 Litton (2012) Cancer 118; 321
BIC nucleic acid #: 1749C>T
Exon 11 Missense c.1648A>C p.N550H 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.1649delA 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 1768delA
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
Exon 11 Deletion c.1673_1674delAA 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 1792_1793delAA
Exon 11 Deletion c.1674delA 5 - Definitely pathogenic >0.99 Couch (1997) N Engl J Med 336; 1409
BIC nucleic acid #: 1793delA
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
Exon 11 Deletion c.1694delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1813delA
Exon 11 Insertion c.1695dupG 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 1814dupG
Exon 11 Deletion c.1700delA 5 - Definitely pathogenic >0.99 Yazici (2002) Hum Mutat 20; 28
BIC nucleic acid #: 1819delA
Exon 11 Deletion c.1713_1717del5 5 - Definitely pathogenic >0.99 Gao (1997) Am J Hum Genet 60; 1233
BIC nucleic acid #: 1832_1836del5
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
Exon 11 Deletion c.1716delA 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 1835delA
Exon 11 Insertion c.1716dupA 5 - Definitely pathogenic >0.99 Ahn (2007) Cancer Lett 245; 90
BIC nucleic acid #: 1835dupA
Exon 11 Deletion c.1729_1730delGA 5 - Definitely pathogenic >0.99 Vaziri (2000) Hum Mutat 17; 74
BIC nucleic acid #: 1848_1849delGA
Exon 11 Nonsense c.1729G>T p.E577* 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 1848G>T
Exon 11 Nonsense c.1741A>T p.K581* 5 - Definitely pathogenic >0.99 Keshavarzi (2012) Fam Cancer 11; 57
BIC nucleic acid #: 1860A>T
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
Exon 11 Deletion c.1757delC 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 1876delC
Exon 11 Deletion c.1758_1761del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1877_1880del4
Exon 11 Deletion c.1759_1762del4 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 1878_1881del4
Exon 11 Nonsense c.1789G>T p.E597* 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 1908G>T
Exon 11 Missense c.1789G>A p.E597K 1 - Not pathogenic or of no clinical significance 0.00000 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:
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
Exon 11 Nonsense c.1793T>G p.L598* 5 - Definitely pathogenic >0.99 Bergman (2005) Fam Cancer 4; 89
BIC nucleic acid #: 1912T>G
Exon 11 Deletion c.1805delA 5 - Definitely pathogenic >0.99 Vehmanen (1997) Hum Mol Genet 6; 2309
BIC nucleic acid #: 1924delA
Exon 11 Deletion c.1817delC 5 - Definitely pathogenic >0.99 Uhrhammer (2008) Int J Med Sci 5; 197
BIC nucleic acid #: 1936delC
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
Exon 11 Deletion c.1823delA 5 - Definitely pathogenic >0.99 Ahn (2007) Cancer Lett 245; 90
BIC nucleic acid #: 1942delA
Exon 11 Deletion c.1823_1826del4 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 1942_1945del4
Exon 11 Deletion c.1831delC p.L611* 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 1950delC
Exon 11 Nonsense c.1840A>T p.K614* 5 - Definitely pathogenic >0.99 Loizidou (2007) Clin Genet 71; 165
BIC nucleic acid #: 1959A>T
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
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
Exon 11 Deletion c.1847delC 5 - Definitely pathogenic >0.99 Kang (2014) BCRT 144, 635
BIC nucleic acid #: 1966delC
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:
Exon 11 Insertion c.1874_1877dup4 5 - Definitely pathogenic >0.99 Balz (2002) Cancer Genet Cytogenet 138; 120
BIC nucleic acid #: 1993_1996dup4
Exon 11 Deletion c.1881_1884del4 5 - Definitely pathogenic >0.99 Gayther (1999) Am J Hum Genet 65; 1021
BIC nucleic acid #: 2000_2003del4
Exon 11 Deletion c.1889delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2008delA
Exon 11 Insertion c.1892dupT 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 2011dupT
Exon 11 Deletion c.1906delT 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 2025delT
Exon 11 Deletion c.1912delG 5 - Definitely pathogenic >0.99 Diez (2003) Hum Mutat 22; 301
BIC nucleic acid #: 2031delG
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
Exon 11 Nonsense c.1916T>A p.L639* 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 2035T>A
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
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:
Exon 11 Deletion c.1930delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2049delT
Exon 11 Deletion c.1934delC 5 - Definitely pathogenic >0.99 Lin (2016) Oncotarget : [Additional report]
BIC nucleic acid #: 2053delC
Exon 11 Deletion c.1936delA 5 - Definitely pathogenic >0.99 Jang (2012) J Hum Genet 57; 212
BIC nucleic acid #: 2055delA
Exon 11 Deletion c.1938_1947del10 5 - Definitely pathogenic >0.99 Ciernikova (2003) Neoplasma 50; 403
BIC nucleic acid #: 2057_2066del10
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
Exon 11 Deletion c.1949_1950delTA 5 - Definitely pathogenic >0.99 Diez (2011) Oncol Lett 2; 1287
BIC nucleic acid #: 2068_2069delTA
Exon 11 Deletion c.1952delA 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 2071delA
Exon 11 Insertion c.1952dupA 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 2071dupA
Exon 11 Insertion c.1953dupG 5 - Definitely pathogenic >0.99 Oros (2004) Int J Cancer 112; 411
BIC nucleic acid #: 2072dupG
Exon 11 Deletion c.1953_1956del4 5 - Definitely pathogenic >0.99 van Orsouw (1999) J Med Genet 36; 747
BIC nucleic acid #: 2072_2073del4
Exon 11 Deletion c.1958_1961del4 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 2077_2080del4
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
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:
Exon 11 Deletion c.1961delA 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 2080delA
Exon 11 Insertion c.1961dupA 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 2080dupA
Exon 11 Insertion c.1963_1964insG 5 - Definitely pathogenic >0.99 Gayther (1999) Am J Hum Genet 65; 1021
BIC nucleic acid #: 2082_2083insG
Exon 11 Insertion c.1963dupT 5 - Definitely pathogenic >0.99 Lim (2009) J Cancer Res Clin Oncol 135; 1593
BIC nucleic acid #: 2082dupT
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
Exon 11 Nonsense c.1969C>T p.Q657* 5 - Definitely pathogenic >0.99 Peixoto (2006) Fam Cancer 5; 379
BIC nucleic acid #: 2088C>T
Exon 11 Deletion c.1996delC 5 - Definitely pathogenic >0.99 Schneegans (2012) Fam Cancer 11; 181
BIC nucleic acid #: 2115delC
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:
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
Exon 11 Insertion c.2012_2013dupGT 5 - Definitely pathogenic >0.99 Chen (2009) Breast Cancer Res Treat 117; 55
BIC nucleic acid #: 2131_2132dupGT
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
Exon 11 Deletion c.2019delA 5 - Definitely pathogenic >0.99 Yazici (2002) Hum Mutat 20; 28
BIC nucleic acid #: 2138delA
Exon 11 Deletion c.2021delC 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 2140delC
Exon 11 Deletion c.2028_2029delTG 5 - Definitely pathogenic >0.99 Yoshihara (2011) Genes Chromosomes Cancer 50; 167
BIC nucleic acid #: 2147_2148delTG
Exon 11 Nonsense c.2035A>T p.K679* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 2154A>T
Exon 11 Indel c.2037delGinsCC 5 - Definitely pathogenic >0.99 Peixoto (2006) Fam Cancer 5; 379
BIC nucleic acid #: 2156delGinsCC
Exon 11 Insertion c.2043dupT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2162dupT
Exon 11 Deletion c.2048delA 5 - Definitely pathogenic >0.99 Kim (2006) Biochem Biophys Res Commun 349; 604
BIC nucleic acid #: 2167delA
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
Exon 11 Deletion c.2063_2066del4 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 2182_2185del4
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
Exon 11 Deletion c.2071delA 5 - Definitely pathogenic >0.99 Andersen (1998) Hum Mutat 11; 166
BIC nucleic acid #: 2190delA
Exon 11 Deletion c.2074delC 5 - Definitely pathogenic >0.99 Hegde (2000) Hum Mutat 16; 422
BIC nucleic acid #: 2193delC
Exon 11 Deletion c.2075_2076delAT 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 2194_2195delAT
Exon 11 Missense c.2077G>A p.D693N 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.2080delA 5 - Definitely pathogenic >0.99 Drusedau (2013) EJHG 21, 1361
BIC nucleic acid #: 2199delA
Exon 11 Insertion c.2086dupA 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 2205dupA
Exon 11 Deletion c.2086delA 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 2205delA
Exon 11 Deletion c.2110_2111delAA 5 - Definitely pathogenic >0.99 Bergman (2005) Fam Cancer 4; 89
BIC nucleic acid #: 2229_2230delAA
Exon 11 Insertion c.2125_2126insA 5 - Definitely pathogenic >0.99 Laplace-Marieze (1999) Int J Oncol 14; 971
BIC nucleic acid #: 2244_2245insA
Exon 11 Deletion c.2126_2127delTT 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 2245_2246delTT
Exon 11 Nonsense c.2138C>G p.S713* 5 - Definitely pathogenic >0.99 Vaziri (2000) Hum Mutat 17; 74
BIC nucleic acid #: 2257C>G
Exon 11 Deletion c.2155_2168del14 5 - Definitely pathogenic >0.99 Papi (2009) Breast Cancer Res Treat 117; 497
BIC nucleic acid #: 2274_2287del14
Exon 11 Insertion c.2157dupA 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 2276dupA
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
Exon 11 Deletion c.2166delC 5 - Definitely pathogenic >0.99 Yang (2011) JAMA 306; 1557
BIC nucleic acid #: 2285delC
Exon 11 Missense c.2167A>G p.N723D 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.2174delG 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 2293delG
Exon 11 Deletion c.2176_2177delCT 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 2295_2296delCT
Exon 11 Deletion c.2176delC 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 2295delC
Exon 11 Deletion c.2188_2201del14 5 - Definitely pathogenic >0.99 Lim (2009) Nat Med 15; 907
BIC nucleic acid #: 2307_2320del14
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
Exon 11 Deletion c.2192_2196del5 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 2311_2315del5
Exon 11 Deletion c.2193_2196del4 5 - Definitely pathogenic >0.99 Matsushima (1995) Hum Mol Genet 4; 1953
BIC nucleic acid #: 2312_2315del4
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
Exon 11 Deletion c.2196delA 5 - Definitely pathogenic >0.99 Smith (2001) Gynecol Oncol 83; 586
BIC nucleic acid #: 2315delA
Exon 11 Deletion c.2197_2201del5 5 - Definitely pathogenic >0.99 Hogervorst (1995) Nat Genet 10; 208
BIC nucleic acid #: 2316_2320del5
Exon 11 Nonsense c.2197G>T p.E733* 5 - Definitely pathogenic >0.99 Litton (2012) Cancer 118; 321
BIC nucleic acid #: 2316G>T
Exon 11 Deletion c.2199delG 5 - Definitely pathogenic >0.99 Al-Sukhni (2008) Hum Genet 124; 271
BIC nucleic acid #: 2318delG
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:
Exon 11 Deletion c.2210delC 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 2329delC
Exon 11 Deletion c.2210_2211delCA 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 2329_2330delCA
Exon 11 Deletion c.2211_2212delAG 5 - Definitely pathogenic >0.99 Smith (2001) Gynecol Oncol 83; 586
BIC nucleic acid #: 2330_2331delAG
Exon 11 Deletion c.2212_2215del4 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 2331_2334del4
Exon 11 Deletion c.2216_2217delAA 5 - Definitely pathogenic >0.99 Yassaee (2002) Breast Cancer Res 4; R6
BIC nucleic acid #: 2335_2336delAA
Exon 11 Insertion c.2236dupG 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 2355dupG
Exon 11 Insertion c.2241dupC 5 - Definitely pathogenic >0.99 Negura (2010) Fam Cancer 9; 519
BIC nucleic acid #: 2360dupC
Exon 11 Deletion c.2241delC 5 - Definitely pathogenic >0.99 Infante (2006) J Hum Genet 51; 611
BIC nucleic acid #: 2360delC
Exon 11 Deletion c.2248_2252del5 5 - Definitely pathogenic >0.99 Zhang (2012) Breast Cancer Res Treat 132; 421
BIC nucleic acid #: 2367_2371del5
Exon 11 Deletion c.2253_2254delGT 5 - Definitely pathogenic >0.99 Khoo (2000) Hum Mutat 16; 88
BIC nucleic acid #: 2372_2373delGT
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
Exon 11 Deletion c.2269delG 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 2388delG
Exon 11 Nonsense c.2275C>T p.Q759* 5 - Definitely pathogenic >0.99 Juwle (2012) Med Oncol 29; 3272
BIC nucleic acid #: 2394C>T
Exon 11 Nonsense c.2281G>T p.E761* 5 - Definitely pathogenic >0.99 Trujillano (2015) JMD 17, 162
BIC nucleic acid #: 2400G>T
Exon 11 Deletion c.2283_2284delAA 5 - Definitely pathogenic >0.99 Johannsson (1996) Am J Hum Genet 58; 441
BIC nucleic acid #: 2402_2403delAA
Exon 11 Insertion c.2292_2310dup19 5 - Definitely pathogenic >0.99 Infante (2006) J Hum Genet 51; 611
BIC nucleic acid #: 2411_2429dup19
Exon 11 Deletion c.2296_2297delAG p.S766* 5 - Definitely pathogenic >0.99 Friedman (1994) Nat Genet 8; 399
BIC nucleic acid #: 2415_2416delAG
Exon 11 Deletion c.2299delA 5 - Definitely pathogenic >0.99 Tworek (1999) Cancer Genet Cytogenet 112; 105
BIC nucleic acid #: 2418delA
Exon 11 Deletion c.2308delT 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 2427delT
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
Exon 11 Insertion c.2310_2311insC 5 - Definitely pathogenic >0.99 Sng (2000) Br J Cancer 82; 538
BIC nucleic acid #: 2429_2430insC
Exon 11 Deletion c.2314delG 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 2433delG
Exon 11 Missense c.2315T>C p.V772A 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Insertion c.2325_2326insA 5 - Definitely pathogenic >0.99 Garcia-Patino (1998) J Clin Oncol 16; 115
BIC nucleic acid #: 2444_2445insA
Exon 11 Nonsense c.2338C>T p.Q780* 5 - Definitely pathogenic >0.99 Hogervorst (1995) Nat Genet 10; 208
BIC nucleic acid #: 2457C>T
Exon 11 Deletion c.2350_2351delTC 5 - Definitely pathogenic >0.99 Montagna (2002) Int J Cancer 98; 732
BIC nucleic acid #: 2469_2470delTC
Exon 11 Deletion c.2351_2357del7 5 - Definitely pathogenic >0.99 Moller (2007) Eur J Cancer 43; 1713
BIC nucleic acid #: 2470_2476del7
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
Exon 11 Deletion c.2356delC 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 2475delC
Exon 11 Deletion c.2357delT 5 - Definitely pathogenic >0.99 Yazici (2002) Hum Mutat 20; 28
BIC nucleic acid #: 2476delT
Exon 11 Deletion c.2359delG 5 - Definitely pathogenic >0.99 Kim (2006) Biochem Biophys Res Commun 349; 604
BIC nucleic acid #: 2478delG
Exon 11 Insertion c.2359dupG 5 - Definitely pathogenic >0.99 Sibille-Hoang (1998) Eur J Cancer Prev 7; 53
BIC nucleic acid #: 2478dupG
Exon 11 Insertion c.2380dupG 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 2479dupG
Exon 11 Deletion c.2389delG 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 2508delG
Exon 11 Deletion c.2389_2390delGA 5 - Definitely pathogenic >0.99 Yamashita (1999) Breast Cancer Res Treat 58; 11
BIC nucleic acid #: 2508_2509delGA
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
Exon 11 Deletion c.2390_2391delAA 5 - Definitely pathogenic >0.99 Schehl (1997) J Natl Cancer Inst 89; 1547
BIC nucleic acid #: 2509_2510delAA
Exon 11 Deletion c.2405_2406delTG 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 2524_2525delTG
Exon 11 Deletion c.2406_2409del4 5 - Definitely pathogenic >0.99 Weitzel (2005) Cancer Epidemiol Biomarkers Prev 14; 1666
BIC nucleic acid #: 2525_2508del4
Exon 11 Nonsense c.2410C>T p.Q804* 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 2529C>T
Exon 11 Deletion c.2410_2411delCA 5 - Definitely pathogenic >0.99 El Saghir (2015) ONC 20, 357
BIC nucleic acid #: 2529_2530delCA
Exon 11 Deletion c.2411delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2530delA
Exon 11 Deletion c.2411_2412delAG 5 - Definitely pathogenic >0.99 Rothfuss (2000) Cancer Res 60; 390
BIC nucleic acid #: 2530_2531delAG
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:
Exon 11 Deletion c.2418delA 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 2537delA
Exon 11 Missense c.2428A>T p.N810Y 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.2429delA 5 - Definitely pathogenic >0.99 Jung (2008) Anal Bioanal Chem 391; 405
BIC nucleic acid #: 2548delA
Exon 11 Deletion c.2433delC 5 - Definitely pathogenic >0.99 Weitzel (2005) Cancer Epidemiol Biomarkers Prev 14; 1666
BIC nucleic acid #: 2552delC
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
Exon 11 Nonsense c.2437G>T p.G813* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2556G>T
Exon 11 Insertion c.2440_2441insA 5 - Definitely pathogenic >0.99 Al-Mulla (2009) J Clin Pathol 62; 350
BIC nucleic acid #: 2559_2560insA
Exon 11 Deletion c.2457delC 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 2576delC
Exon 11 Missense c.2458A>G p.K820E 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.2475delC 5 - Definitely pathogenic >0.99 Plummer (1995) Hum Mol Genet 4; 1989
BIC nucleic acid #: 2594delC
Exon 11 Deletion c.2476delA 5 - Definitely pathogenic >0.99 Johannsson (1996) Am J Hum Genet 58; 441
BIC nucleic acid #: 2595delA
Exon 11 Deletion c.2477delC 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 2596delC
Exon 11 Missense c.2477C>A p.T826K 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.2481delA p.Gly828Alafs*18 5 - Definitely pathogenic >0.99 Janavicius (2014) CG 207, 195
BIC nucleic acid #: 2600delA
Exon 11 Deletion c.2486_2487delTT 5 - Definitely pathogenic >0.99 Jara (2006) Cancer Genet Cytogenet 166; 36
BIC nucleic acid #: 2605_2606delTT
Exon 11 Deletion c.2487delT 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 2606delT
Exon 11 Insertion c.2487dupT 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 2606dupT
Exon 11 Insertion c.2488_2497dup10 p.K833* 5 - Definitely pathogenic >0.99 Machackova (2001) Hum Mutat 18; 545
BIC nucleic acid #: 2607_2616dup10
Exon 11 Insertion c.2488_2504dup17 5 - Definitely pathogenic >0.99 George (2013) Clin Cancer Res 19; 3474
BIC nucleic acid #: 2607_2623dup17
Exon 11 Insertion c.2490_2497dup8 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 2609_2616dup8
Exon 11 Deletion c.2501delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2620delG
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
Exon 11 Deletion c.2513delA 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 2632delA
Exon 11 Deletion c.2515delC 5 - Definitely pathogenic >0.99 King (2001) JAMA 286; 2251
BIC nucleic acid #: 2634delC
Exon 11 Deletion c.2517_2518delCA 5 - Definitely pathogenic >0.99 Krainer (1997) N Engl J Med 336; 1419
BIC nucleic acid #: 2636_2637delCA
Exon 11 Deletion c.2518delA 5 - Definitely pathogenic >0.99 Couch (1997) N Engl J Med 336; 1409
BIC nucleic acid #: 2637delA
Exon 11 Missense c.2521C>T p.R841W 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Insertion c.2524dupG 5 - Definitely pathogenic >0.99 Soegaard (2008) CCR 14, 3761
BIC nucleic acid #: 2643dupG
Exon 11 Missense c.2525A>G p.E842G 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.2530delA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 2649delA
Exon 11 Deletion c.2551delG 5 - Definitely pathogenic >0.99 Troudi (2008) Cancer Biomark 4; 11
BIC nucleic acid #: 2670delG
Exon 11 Deletion c.2556delT 5 - Definitely pathogenic >0.99 Emi (1998) Jpn J Cancer Res 89; 12
BIC nucleic acid #: 2675delT
Exon 11 Insertion c.2556dupT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2675dupT
Exon 11 Insertion c.2558dupA 5 - Definitely pathogenic >0.99 Lim (2009) Nat Med 15; 907
BIC nucleic acid #: 2677dupA
Exon 11 Insertion c.2560_2561dupGC 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 2679_2680dupGC
Exon 11 Deletion c.2561_2565del5 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 2680_2684del5
Exon 11 Nonsense c.2563C>T p.Q855* 5 - Definitely pathogenic >0.99 Perkowska (2003) Hum Mutat 21; 553
BIC nucleic acid #: 2682C>T
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:
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
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
Exon 11 Missense c.2584A>G p.K862E 1 - Not pathogenic or of no clinical significance 0.00000 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:
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
Exon 11 Deletion c.2594delA 5 - Definitely pathogenic >0.99 Miesfeldt (1998) Cancer Genet Cytogenet 100; 43
BIC nucleic acid #: 2713delA
Exon 11 Missense c.2596C>T p.R866C 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Insertion c.2601_2604dup4 5 - Definitely pathogenic >0.99 Tworek (1999) Cancer Genet Cytogenet 112; 105
BIC nucleic acid #: 2720_2723dup4
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
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
Exon 11 Deletion c.2611_2612delCC 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 2730_2731delCC
Exon 11 Insertion c.2612dupC 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2731dupC
Exon 11 Insertion c.2612_2613insT 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 2731_2732insT
Exon 11 Indel c.2612delCinsTT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2731delCinsTT
Exon 11 Insertion c.2617dupT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2736dupT
Exon 11 Nonsense c.2635G>T p.E879* 5 - Definitely pathogenic >0.99 Khoo (2000) Hum Mutat 15; 485
BIC nucleic acid #: 2754G>T
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
Exon 11 Deletion c.2643delA 5 - Definitely pathogenic >0.99 Tikhomirova (2007) Genetika 43; 1263
BIC nucleic acid #: 2762delA
Exon 11 Deletion c.2646_2648delTGC 5 - Definitely pathogenic >0.99 Verhoog (1998) Lancet 351; 316
BIC nucleic acid #: 2765_2767delTGC
Exon 11 Insertion c.2647_2648ins4 5 - Definitely pathogenic >0.99 Stavropoulou (2013) PLoS One 8; e58182
BIC nucleic acid #: 2766_2767ins4
Exon 11 Deletion c.2657_2658delCT 5 - Definitely pathogenic >0.99 Gayther (1999) Am J Hum Genet 65; 1021
BIC nucleic acid #: 2776_2777delCT
Exon 11 Insertion c.2659_2660insA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 2778_2779insA
Exon 11 Insertion c.2659dupG 5 - Definitely pathogenic >0.99 Weber (2004) Anal Chem 76; 4839
BIC nucleic acid #: 2778dupG
Exon 11 Insertion c.2665dupT 5 - Definitely pathogenic >0.99 Purnomosari (2007) Breast Cancer Res Treat 106; 297
BIC nucleic acid #: 2784dupT
Exon 11 Deletion c.2670delG 5 - Definitely pathogenic >0.99 Troudi (2007) J Hum Genet 52; 915
BIC nucleic acid #: 2789delG
Exon 11 Deletion c.2671delT 5 - Definitely pathogenic >0.99 Hu (2003) Hum Mutat 22; 104
BIC nucleic acid #: 2790delT
Exon 11 Deletion c.2679_2680delGA 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2798_2799delGA
Exon 11 Deletion c.2679_2682del4 5 - Definitely pathogenic >0.99 Couch (1997) N Engl J Med 336; 1409
BIC nucleic acid #: 2798_2801del4
Exon 11 Deletion c.2681_2682delAA 5 - Definitely pathogenic >0.99 Friedman (1994) Nat Genet 8; 399
BIC nucleic acid #: 2800_2801delAA
Exon 11 Deletion c.2682delA 5 - Definitely pathogenic >0.99 Young (2009) BMC Cancer 9; 86
BIC nucleic acid #: 2801delA
Exon 11 Deletion c.2683_2686del4 5 - Definitely pathogenic >0.99 Infante (2006) J Hum Genet 51; 611
BIC nucleic acid #: 2802_2805del4
Exon 11 Nonsense c.2683C>T p.Q895* 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 2802C>T
Exon 11 Deletion c.2685_2686delAA 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 2804_2805delAA
Exon 11 Deletion c.2686delA 5 - Definitely pathogenic >0.99 Solano (2012) SpringerPlus 1;
BIC nucleic acid #: 2805delA
Exon 11 Insertion c.2689_2690insA 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 2808_2809insA
Exon 11 Insertion c.2694dupA 5 - Definitely pathogenic >0.99 Pals (1999) Mol Diagn 4; 241
BIC nucleic acid #: 2813dupA
Exon 11 Deletion c.2702_2703delTT 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 2821delTT
Exon 11 Deletion c.2709_2710delTG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2828_2829delTG
Exon 11 Nonsense c.2710G>T p.E904* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2829G>T
Exon 11 Nonsense c.2713C>T p.Q905* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2832C>T
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
Exon 11 Insertion c.2717dupA 5 - Definitely pathogenic >0.99 Vijayalakshmi (2011) Int J Hum Genet 11 127
BIC nucleic acid #: 2836dupA
Exon 11 Deletion c.2719_2722del4 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 2838_2841del4
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
Exon 11 Deletion c.2726delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 2845delA
Exon 11 Deletion c.2726_2730del5 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 2845_2849del5
Exon 11 Insertion c.2726dupA 5 - Definitely pathogenic >0.99 Ho (2000) Cancer 89; 811
BIC nucleic acid #: 2845dupA
Exon 11 Deletion c.2727_2730del4 5 - Definitely pathogenic >0.99 Montagna (1996) Cancer Res 56; 5466
BIC nucleic acid #: 2846_2849del4
Exon 11 Deletion c.2728delC 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 2847delC
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
Exon 11 Deletion c.2744_2745delCT 5 - Definitely pathogenic >0.99 Friedman (1994) Nat Genet 8; 399
BIC nucleic acid #: 2863_2864delCT
Exon 11 Insertion c.2745dupT 5 - Definitely pathogenic >0.99 Uhrhammer (2008) Int J Med Sci 5; 197
BIC nucleic acid #: 2864dupT
Exon 11 Insertion c.2749dupA 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 2868dupA
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:
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
Exon 11 Deletion c.2762delA 5 - Definitely pathogenic >0.99 Foretova (2004) Hum Mutat 23; 397
BIC nucleic acid #: 2881delA
Exon 11 Deletion c.2764_2767del4 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 2883_2886del4
Exon 11 Deletion c.2766delA 5 - Definitely pathogenic >0.99 Ho (2000) Cancer 89; 811
BIC nucleic acid #: 2885delA
Exon 11 Missense c.2773A>C p.I925L 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.2796_2799del4 5 - Definitely pathogenic >0.99 Malone (1998) JAMA 279; 922
BIC nucleic acid #: 2915_2918del4
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
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
Exon 11 Deletion c.2805delA 5 - Definitely pathogenic >0.99 Tazzite (2012) Gynecol Oncol 125; 687
BIC nucleic acid #: 2924delA
Exon 11 Deletion c.2806_2809del4 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 2925_2928del4
Exon 11 Deletion c.2808_2811del4 5 - Definitely pathogenic >0.99 Laplace-Marieze (1999) Int J Oncol 14; 971
BIC nucleic acid #: 2927_2930del4
Exon 11 Deletion c.2812_2813delCC 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 2931_2932delCC
Exon 11 Indel c.2812_2813delCCinsG 5 - Definitely pathogenic >0.99 Tchou (2007) Clin Breast Cancer 7; 627
BIC nucleic acid #: 2931_2932delCCinsG
Exon 11 Deletion c.2814delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2933delA
Exon 11 Deletion c.2830delT 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 2949delT
Exon 11 Nonsense c.2832T>A p.C944* 5 - Definitely pathogenic >0.99 Pal (2005) Cancer 104; 2807
BIC nucleic acid #: 2951T>A
Exon 11 Deletion c.2834_2835delGT 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 2953_2954delGT
Exon 11 Indel c.2834_2836delGTAinsC 5 - Definitely pathogenic >0.99 Durocher (1996) J Med Genet 33; 814
BIC nucleic acid #: 2953_2955delGTAinsC
Exon 11 Insertion c.2835dupT 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 2954dupT
Exon 11 Deletion c.2836_2837delAT 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 2955_2956delAT
Exon 11 Indel c.2836_2837delATinsC 5 - Definitely pathogenic >0.99 George (2013) Clin Cancer Res 19; 3474
BIC nucleic acid #: 2955_2956delATinsC
Exon 11 Deletion c.2844_2853del10 5 - Definitely pathogenic >0.99 Grudinina (2005) Hum Genet 41; 405
BIC nucleic acid #: 2963_2972del10
Exon 11 Deletion c.2846delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2965delG
Exon 11 Insertion c.2848dupT p.R951* 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 2967dupT
Exon 11 Deletion c.2856_2857delTT 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 2975_2576delTT
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
Exon 11 Deletion c.2866_2870del5 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 2985_2989del5
Exon 11 Nonsense c.2869C>T p.Q957* 5 - Definitely pathogenic >0.99 Borg (1999) Dis Markers 15; 79
BIC nucleic acid #: 2988C>T
Exon 11 Insertion c.2870dupA 5 - Definitely pathogenic >0.99 Manguoglu (2003) Hum Mutat 21; 444
BIC nucleic acid #: 2989dupA
Exon 11 Deletion c.2872_2876del5 5 - Definitely pathogenic >0.99 Ratajska (2008) Oncol Rep 19; 263
BIC nucleic acid #: 2991_2995del5
Exon 11 Deletion c.2875delA 5 - Definitely pathogenic >0.99 Lee (2011) J Clin Oncol 29; 4373
BIC nucleic acid #: 2994delA
Exon 11 Deletion c.2887delA 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 3006delA
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
Exon 11 Deletion c.2898delT 5 - Definitely pathogenic >0.99 Michils (2012) J Mol Diagn 14; 623
BIC nucleic acid #: 3017delT
Exon 11 Insertion c.2901_2902dupTC 5 - Definitely pathogenic >0.99 Blay (2013) BMC Cancer 13; 243
BIC nucleic acid #: 3020_3021dupTC
Exon 11 Deletion c.2906delA 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 3025delA
Exon 11 Deletion c.2910delA 5 - Definitely pathogenic >0.99 Bergman (2005) Fam Cancer 4; 89
BIC nucleic acid #: 3029delA
Exon 11 Deletion c.2911delC 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3030delC
Exon 11 Nonsense c.2914G>T p.G972* 5 - Definitely pathogenic >0.99 Ahn (2007) Cancer Lett 245; 90
BIC nucleic acid #: 3033G>T
Exon 11 Deletion c.2920_2921delTT 5 - Definitely pathogenic >0.99 Garvin (1997) J Med Genet 34; 990
BIC nucleic acid #: 3039_3040elTT
Exon 11 Nonsense c.2921T>A p.L974* 5 - Definitely pathogenic >0.99 Tomka (2001) Neoplasma 48; 451
BIC nucleic acid #: 3040T>A
Exon 11 Insertion c.2921dupT 5 - Definitely pathogenic >0.99 Schroeder (2010) Breast Cancer Res Treat 122; 287
BIC nucleic acid #: 3040dupT
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
Exon 11 Insertion c.2929_2930dupCC 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3048_3049dupCC
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
Exon 11 Deletion c.2934delT 5 - Definitely pathogenic >0.99 Vaziri (2000) Hum Mutat 17; 74
BIC nucleic acid #: 3053delT
Exon 11 Deletion c.2951_2952delTT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3070_3071delTT
Exon 11 Deletion c.2952delT 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 3071delT
Exon 11 Insertion c.2952dupT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3071dupT
Exon 11 Deletion c.2955delC 5 - Definitely pathogenic >0.99 Robertson (2012) Br J Cancer 106; 1234
BIC nucleic acid #: 3074delC
Exon 11 Nonsense c.2963C>A p.S988* 5 - Definitely pathogenic >0.99 Scott (2003) Hum Genet 112; 542
BIC nucleic acid #: 3082C>A
Exon 11 Deletion c.2967delT 5 - Definitely pathogenic >0.99 De Silva (2008) BMC Cancer 8; 214
BIC nucleic acid #: 3086delT
Exon 11 Deletion c.2973_2979del7 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 3092_2098del7
Exon 11 Deletion c.2974_2990del17 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol 121; 353
BIC nucleic acid #: 3093_3109del17
Exon 11 Deletion c.2980delT 5 - Definitely pathogenic >0.99 Konstantopoulou (2000) Hum Mutat 16; 272
BIC nucleic acid #: 3099delT
Exon 11 Insertion c.2989_2990dupAA 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 3108_3109dupAA
Exon 11 Deletion c.2990delA 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 3109delA
Exon 11 Deletion c.2999delA 5 - Definitely pathogenic >0.99 Mote (2004) Genes Chromosomes Cancer 39; 236
BIC nucleic acid #: 3118delA
Exon 11 Deletion c.3005delA 5 - Definitely pathogenic >0.99 Simard (1994) Nat Genet 8; 392
BIC nucleic acid #: 3124delA
Exon 11 Deletion c.3008_3009delTT 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 3127_3128delTT
Exon 11 Deletion c.3013delG 5 - Definitely pathogenic >0.99 Goelen (1999) J Med Genet 36; 304
BIC nucleic acid #: 3132delG
Exon 11 Deletion c.3018_3021del4 5 - Definitely pathogenic >0.99 Wagner (1998) Int J Cancer 77; 354
BIC nucleic acid #: 3137_3140del4
Exon 11 Nonsense c.3020C>G p.S1007* 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 3139C>G
Exon 11 Missense c.3022A>G p.M1008V 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Missense c.3024G>A p.M1008I 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.3029_3030delCT 5 - Definitely pathogenic >0.99 John (2007) JAMA 298; 2869
BIC nucleic acid #: 3148_3149delCT
Exon 11 Insertion c.3048_3052dup5 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 3167_3171dup5
Exon 11 Insertion c.3061dupA 5 - Definitely pathogenic >0.99 Cao (2014) APJCP 15, 4513
BIC nucleic acid #: 3180dupA
Exon 11 Missense c.3083G>A p.R1028H 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.3084_3094del11 5 - Definitely pathogenic >0.99 Moller (2007) Eur J Cancer 43; 1713
BIC nucleic acid #: 3203_3213del11
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
Exon 11 Deletion c.3108delT 5 - Definitely pathogenic >0.99 Pal (2001) Fam Cancer 1; 17
BIC nucleic acid #: 3227delT
Exon 11 Insertion c.3108dupT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3227dupT
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
Exon 11 Missense c.3113A>G p.E1038G 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Missense c.3119G>A p.S1040N 1 - Not pathogenic or of no clinical significance 0.00000 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:
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
Exon 11 Deletion c.3125_3134del10 5 - Definitely pathogenic >0.99 Vaca-Paniagua (2012) PLoS One 7; e37432
BIC nucleic acid #: 3244_3253del10
Exon 11 Missense c.3130A>G p.I1044V 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.3143delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3262delG
Exon 11 Deletion c.3145delT 5 - Definitely pathogenic >0.99 Bonadona (2005) Genes Chromosomes Cancer 43; 404
BIC nucleic acid #: 3264delT
Exon 11 Deletion c.3155delA 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 3274delA
Exon 11 Deletion c.3157delG 5 - Definitely pathogenic >0.99 Lim (2009) J Cancer Res Clin Oncol 135; 1593
BIC nucleic acid #: 3276delG
Exon 11 Insertion c.3157dupG 5 - Definitely pathogenic >0.99 Konstantopoulou (2000) Hum Mutat 16; 272
BIC nucleic acid #: 3276dupG
Exon 11 Insertion c.3158_3159insG 5 - Definitely pathogenic >0.99 Stavropoulou (2013) PLoS One 8; e58182
BIC nucleic acid #: 3277_3278insG
Exon 11 Deletion c.3164delG 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 3283delG
Exon 11 Deletion c.3168delC 5 - Definitely pathogenic >0.99 Gayther (1999) Am J Hum Genet 65; 1021
BIC nucleic acid #: 3287delC
Exon 11 Deletion c.3169_3172del4 5 - Definitely pathogenic >0.99 Ahmad (2012) Clin Genet 82; 594
BIC nucleic acid #: 3288_3291del4
Exon 11 Nonsense c.3178G>T p.E1060* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 3297G>T
Exon 11 Deletion c.3181delA 5 - Definitely pathogenic >0.99 Patmasiriwat (2002) Hum Mutat 20; 230
BIC nucleic acid #: 3300delA
Exon 11 Deletion c.3183delA 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3302delA
Exon 11 Indel c.3188_3189delCCinsG 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 3307_3308delCCinsG
Exon 11 Insertion c.3193dupG 5 - Definitely pathogenic >0.99 Werness (2000) Int J Gynecol Pathol 19; 390
BIC nucleic acid #: 3312dupG
Exon 11 Insertion c.3211dupG 5 - Definitely pathogenic >0.99 Shen (2000) J Natl Med Assoc 92; 29
BIC nucleic acid #: 3330dupG
Exon 11 Deletion c.3214delC 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 3333delC
Exon 11 Indel c.3220_3226del7insTT 5 - Definitely pathogenic >0.99 Sun (2014) IJCEP 7, 6262
BIC nucleic acid #: 3339_3345del7insTT
Exon 11 Deletion c.3228_3229delAG 5 - Definitely pathogenic >0.99 Malone (1998) JAMA 279; 922
BIC nucleic acid #: 3347_3348delAG
Exon 11 Nonsense c.3239T>A p.L1080* 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 3358T>A
Exon 11 Insertion c.3254_3255dupGA 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 3373_3374dupGA
Exon 11 Insertion c.3255dupA 5 - Definitely pathogenic >0.99 Santarosa (1998) Int J Cancer 78; 581
BIC nucleic acid #: 3374dupA
Exon 11 Insertion c.3257dupT 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 3376dupT
Exon 11 Nonsense c.3257T>A p.L1086* 5 - Definitely pathogenic >0.99 Peixoto (2014) CLIN GENET epub, epub
BIC nucleic acid #: 3376T>A
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
Exon 11 Deletion c.3262delG 5 - Definitely pathogenic >0.99 Sng (2000) Br J Cancer 82; 538
BIC nucleic acid #: 3381delG
Exon 11 Deletion c.3266delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3385delT
Exon 11 Nonsense c.3268C>T p.Q1090* 5 - Definitely pathogenic >0.99 Gao (2000) Hum Genet 107; 192
BIC nucleic acid #: 3387C>T
Exon 11 Deletion c.3279delC 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3398delC
Exon 11 Deletion c.3285delA 5 - Definitely pathogenic >0.99 Papi (2009) Breast Cancer Res Treat 117; 497
BIC nucleic acid #: 3404delA
Exon 11 Deletion c.3286delC 5 - Definitely pathogenic >0.99 Naseem (2006) Clin Genet 70; 388
BIC nucleic acid #: 3405delC
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
Exon 11 Deletion c.3288_3289delAA 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 3407_3408delAA
Exon 11 Deletion c.3289delA 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 3408delA
Exon 11 Deletion c.3296delC 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 3415delC
Exon 11 Missense c.3296C>T p.P1099L 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Missense c.3302G>A p.S1101N 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Insertion c.3307dupT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3426dupT
Exon 11 Deletion c.3314delA 5 - Definitely pathogenic >0.99 Bergman (2005) Fam Cancer 4; 89
BIC nucleic acid #: 3433delA
Exon 11 Nonsense c.3319G>T p.E1107* 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 3438G>T
Exon 11 Deletion c.3323_3326del4 5 - Definitely pathogenic >0.99 Duarte (2002) Rev Clin Esp 202; 259
BIC nucleic acid #: 3442_3445del4
Exon 11 Deletion c.3326_3329del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3445_3448del4
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:
Exon 11 Deletion c.3329delA 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 3448delA
Exon 11 Deletion c.3329_3330delAG 5 - Definitely pathogenic >0.99 Salgado (2005) Oncol Rep 14; 85
BIC nucleic acid #: 3448_3449delAG
Exon 11 Insertion c.3329dupA 5 - Definitely pathogenic >0.99 Garvin (1996) J Med Genet 33; 721
BIC nucleic acid #: 3448dupA
Exon 11 Deletion c.3331delC 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3450delC
Exon 11 Deletion c.3331_3334del4 5 - Definitely pathogenic >0.99 Durocher (1996) J Med Genet 33; 814
BIC nucleic acid #: 3450_3453del4
Exon 11 Deletion c.3333delA 5 - Definitely pathogenic >0.99 Elit (2001) Int J Gynecol Cancer 11; 241
BIC nucleic acid #: 3452delA
Exon 11 Deletion c.3333_3336del4 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 3452_3455del4
Exon 11 Nonsense c.3339T>G p.Y1113* 5 - Definitely pathogenic >0.99 Scott (2003) Hum Genet 112; 542
BIC nucleic acid #: 3458T>G
Exon 11 Nonsense c.3340G>T p.E1114* 5 - Definitely pathogenic >0.99 Kang (2002) Hum Mutat 20; 235
BIC nucleic acid #: 3459G>T
Exon 11 Deletion c.3342_3345del4 5 - Definitely pathogenic >0.99 Kwong (2009) Breast Cancer Res Treat 117; 683
BIC nucleic acid #: 3461_3464del4
Exon 11 Deletion c.3343delG 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 3462delG
Exon 11 Insertion c.3351dupT 5 - Definitely pathogenic >0.99 Vietri (2012) Clin Chem Lab Med 50; 2171
BIC nucleic acid #: 3470dupT
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
Exon 11 Deletion c.3354_3355delGA 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 3473_3474delGA
Exon 11 Deletion c.3355_3359del5 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3474_3478del5
Exon 11 Deletion c.3357delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3476delT
Exon 11 Deletion c.3358_3359delGT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3477_3478delGT
Exon 11 Deletion c.3359_3360delTT 5 - Definitely pathogenic >0.99 Miramar (2008) Breast Cancer Res Treat 112; 353
BIC nucleic acid #: 3478_3479delTT
Exon 11 Deletion c.3359_3363del5 5 - Definitely pathogenic >0.99 Li (2006) Int J Gynecol Cancer 16S1; 172
BIC nucleic acid #: 3478_3482del5
Exon 11 Deletion c.3375_3376delTC 5 - Definitely pathogenic >0.99 Kashima (2000) Jpn J Cancer Res 91; 399
BIC nucleic acid #: 3494_3495delTC
Exon 11 Deletion c.3377delC 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 3496delC
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
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
Exon 11 Deletion c.3390delA 5 - Definitely pathogenic >0.99 Litton (2012) Cancer 118; 321
BIC nucleic acid #: 3509delA
Exon 11 Deletion c.3397_3398delTT 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 3516_3517delTT
Exon 11 Nonsense c.3398T>G p.L1133* 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 3517T>G
Exon 11 Nonsense c.3400G>T p.E1134* 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 3519G>T
Exon 11 Nonsense c.3403C>T p.Q1135* 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 3522C>T
Exon 11 Deletion c.3413delG 5 - Definitely pathogenic >0.99 Amikura (2006) Gynecol Oncol 100; 365
BIC nucleic acid #: 3532delG
Exon 11 Deletion c.3416delG 5 - Definitely pathogenic >0.99 Robertson (2012) Br J Cancer 106; 1234
BIC nucleic acid #: 3535delG
Exon 11 Deletion c.3417delT 5 - Definitely pathogenic >0.99 Salgado (2009) Breast Cancer Res Treat 113; 71
BIC nucleic acid #: 3536delT
Exon 11 Missense c.3418A>G p.S1140G 1 - Not pathogenic or of no clinical significance 0.00000 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:
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
Exon 11 Deletion c.3424delG 5 - Definitely pathogenic >0.99 Chan (2012) J Mol Diagn 14; 602
BIC nucleic acid #: 3543delG
Exon 11 Indel c.3428delCinsTA 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 3947delCinsTA
Exon 11 Nonsense c.3430C>T p.Q1144* 5 - Definitely pathogenic >0.99 Schorge (2001) Gynecol Oncol 83; 383
BIC nucleic acid #: 3549C>T
Exon 11 Deletion c.3436_3439del4 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 3555_3558del4
Exon 11 Deletion c.3442delG 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 3561delG
Exon 11 Deletion c.3450delT 5 - Definitely pathogenic >0.99 Zhang (2012) Breast Cancer Res Treat 132; 421
BIC nucleic acid #: 3569delT
Exon 11 Insertion c.3450dupT p.D1151* 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 3569dupT
Exon 11 Missense c.3463G>C p.D1155H 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.3468delT 5 - Definitely pathogenic >0.99 Ruiz-Flores (2002) Hum Mutat 20; 474
BIC nucleic acid #: 3587delT
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
Exon 11 Deletion c.3476_3479del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3595_3598del4
Exon 11 Deletion c.3477_3480del4 5 - Definitely pathogenic >0.99 Montagna (1996) Cancer Res 56; 5466
BIC nucleic acid #: 3596_3599del4
Exon 11 Deletion c.3481delG 5 - Definitely pathogenic >0.99 Gross (1999) Hum Genet 105; 72
BIC nucleic acid #: 3600delG
Exon 11 Deletion c.3481_3491del11 5 - Definitely pathogenic >0.99 Struewing (1995) Am J Hum Genet 57; 1
BIC nucleic acid #: 3600_3610del11
Exon 11 Deletion c.3485delA 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 3604delA
Exon 11 Deletion c.3494_3495delTT 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 3613_3614delTT
Exon 11 Insertion c.3503dupA 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 3622dupA
Exon 11 Deletion c.3505_3509del5 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 3624_3628del5
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
Exon 11 Deletion c.3531delT 5 - Definitely pathogenic >0.99 Tihomirova (2014) ADVMS 59, 114
BIC nucleic acid #: 3650delT
Exon 11 Deletion c.3540_3541delCG 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3659_3660delCG
Exon 11 Deletion c.3541_3556del16 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 3660_3675del16
Exon 11 Deletion c.3545delA 5 - Definitely pathogenic >0.99 Cecener (2014) CANCER INV 32, 375
BIC nucleic acid #: 3664delA
Exon 11 Missense c.3548A>G p.K1183R 1 - Not pathogenic or of no clinical significance 0.00000 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:
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
Exon 11 Indel c.3549_3550delAGinsT 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 3668_3669delAGinsT
Exon 11 Nonsense c.3553G>T p.E1185* 5 - Definitely pathogenic >0.99 Valarmathi (2004) Hum Mutat 23; 205
BIC nucleic acid #: 3672G>T
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
Exon 11 Insertion c.3578dupT 5 - Definitely pathogenic >0.99 Eccles (1998) Br J Cancer 77; 2199
BIC nucleic acid #: 3697dupT
Exon 11 Deletion c.3583delC 5 - Definitely pathogenic >0.99 Esteban Cardeñosa (2008) Breast Cancer Res Treat 112; 69
BIC nucleic acid #: 3702delC
Exon 11 Insertion c.3586dupA 5 - Definitely pathogenic >0.99 Simard (2007) J Med Genet 44; 107
BIC nucleic acid #: 3705dupA
Exon 11 Nonsense c.3593T>A p.L1198* 5 - Definitely pathogenic >0.99 Ahn (2007) Cancer Lett 245; 90
BIC nucleic acid #: 3712T>A
Exon 11 Deletion c.3596_3602del7 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 3715_3721del7
Exon 11 Nonsense c.3598C>T p.Q1200* 5 - Definitely pathogenic >0.99 Tartaglini (1998) Hum Mutat S1; S163
BIC nucleic acid #: 3717C>T
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:
Exon 11 Nonsense c.3607C>T p.R1203* 5 - Definitely pathogenic >0.99 Friedman (1994) Nat Genet 8; 399
BIC nucleic acid #: 3726C>T
Exon 11 Missense c.3608G>A p.R1203Q 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.3612delA 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 3731delA
Exon 11 Indel c.3621_3626del6insAA 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 3740_3745del6insAA
Exon 11 Deletion c.3624delA 5 - Definitely pathogenic >0.99 Konstantopoulou (2014) CLIN GENET 85, 36
BIC nucleic acid #: 3743delA
Exon 11 Insertion c.3624dupA 5 - Definitely pathogenic >0.99 Konstantopoulou (2000) Hum Mutat 16; 272
BIC nucleic acid #: 3743dupA
Exon 11 Insertion c.3626dupT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3745dupT
Exon 11 Deletion c.3626delT 5 - Definitely pathogenic >0.99 Vehmanen (1997) Hum Mol Genet 6; 2309
BIC nucleic acid #: 3745delT
Exon 11 Insertion c.3627dupA 5 - Definitely pathogenic >0.99 Kim (2006) Biochem Biophys Res Commun 349; 604
BIC nucleic acid #: 3746dupA
Exon 11 Deletion c.3628delG 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 3747delG
Exon 11 Deletion c.3629_3630delAG 5 - Definitely pathogenic >0.99 Sauvan (2000) Hum Mutat 17; 154
BIC nucleic acid #: 3748_3749delAG
Exon 11 Nonsense c.3635C>A p.S1212* 5 - Definitely pathogenic >0.99 Churpek (2015) BCRT 149, 31
BIC nucleic acid #: 3754C>A
Exon 11 Missense c.3640G>A p.E1214K 1 - Not pathogenic or of no clinical significance 0.00000 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:
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
Exon 11 Deletion c.3642_3643delGA 5 - Definitely pathogenic >0.99 Machackova (2001) Hum Mutat 18; 545
BIC nucleic acid #: 3761_3762delGA
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
Exon 11 Insertion c.3648dupA 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 3767dupA
Exon 11 Insertion c.3649dupT 5 - Definitely pathogenic >0.99 van Orsouw (1999) J Med Genet 36; 747
BIC nucleic acid #: 3768dupT
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
Exon 11 Nonsense c.3664G>T p.E1222* 5 - Definitely pathogenic >0.99 Churpek (2015) BCRT 149, 31
BIC nucleic acid #: 3783G>T
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
Exon 11 Deletion c.3676_3679del4 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3795_3798del4
Exon 11 Nonsense c.3689T>G p.L1230* 5 - Definitely pathogenic >0.99 Blay (2013) BMC Cancer 13;
BIC nucleic acid #: 3808T>G
Exon 11 Insertion c.3693dupT 5 - Definitely pathogenic >0.99 Rashid (2006) Int J Cancer 119; 2832
BIC nucleic acid #: 3812dupT
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
Exon 11 Deletion c.3699delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3818delA
Exon 11 Deletion c.3700_3704del5 5 - Definitely pathogenic >0.99 Takahashi (1995) Cancer Res 55; 2998
BIC nucleic acid #: 3819_3823del5
Exon 11 Deletion c.3704delA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3823delA
Exon 11 Deletion c.3704_3707del4 5 - Definitely pathogenic >0.99 Palomba (2009) BMC Cancer 9; 245
BIC nucleic acid #: 3823_3826del4
Exon 11 Deletion c.3706_3707delAA 5 - Definitely pathogenic >0.99 Alharbi (2005) Genome Res 15; 967
BIC nucleic acid #: 3825_3826delAA
Exon 11 Deletion c.3706_3713del8 5 - Definitely pathogenic >0.99 Haffty (2009) Ann Oncol 20; 1653
BIC nucleic acid #: 3825_3832del8
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:
Exon 11 Deletion c.3710delT 5 - Definitely pathogenic >0.99 Johannsson (1996) Am J Hum Genet 58; 441
BIC nucleic acid #: 3829delT
Exon 11 Missense c.3713C>T p.P1238L 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.3715delT 5 - Definitely pathogenic >0.99 Uhrhammer (2008) Int J Med Sci 5; 197
BIC nucleic acid #: 3834delT
Exon 11 Indel c.3715_3717delTCTinsC 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 3834–3836delTCT;insC
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
Exon 11 Deletion c.3731_3738del8 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3850_3857del8
Exon 11 Missense c.3739G>A p.V1247I 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Missense c.3748G>A p.E1250K 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Nonsense c.3748G>T p.E1250* 5 - Definitely pathogenic >0.99 Castilla (1994) Nat Genet 8; 387
BIC nucleic acid #: 3867G>T
Exon 11 Insertion c.3751dupT 5 - Definitely pathogenic >0.99 Fourati (2014) BULL CANC 101, E36
BIC nucleic acid #: 3870dupT
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
Exon 11 Deletion c.3756_3757delGT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3875_3876delGT
Exon 11 Deletion c.3756_3759del4 5 - Definitely pathogenic >0.99 Castilla (1994) Nat Genet 8; 387
BIC nucleic acid #: 3875_3878del4
Exon 11 Deletion c.3758_3759delCT 5 - Definitely pathogenic >0.99 Solano (2012) SpringerPlus 1;
BIC nucleic acid #: 3877_3878delCT
Exon 11 Deletion c.3759_3760delTA 5 - Definitely pathogenic >0.99 John (2007) JAMA 298; 2869
BIC nucleic acid #: 3878_3879delTA
Exon 11 Insertion c.3759dupT 5 - Definitely pathogenic >0.99 Greenman (1998) Genes Chromosomes Cancer 21; 244
BIC nucleic acid #: 3878dupT
Exon 11 Insertion c.3760_3761insT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 3879_3880insT
Exon 11 Deletion c.3762_3763delGA 5 - Definitely pathogenic >0.99 Ottini (1998) Hum Mutat S1; S237
BIC nucleic acid #: 3881_3882elGA
Exon 11 Deletion c.3763_3764delAA 5 - Definitely pathogenic >0.99 Alharbi (2005) Genome Res 15; 967
BIC nucleic acid #: 3882_3883delAA
Exon 11 Insertion c.3764dupA 5 - Definitely pathogenic >0.99 Gao (1997) Am J Hum Genet 60; 1233
BIC nucleic acid #: 3883dupA
Exon 11 Deletion c.3767_3768delCA 5 - Definitely pathogenic >0.99 Andres (2014) CLTO 16, 280
BIC nucleic acid #: 3886_3887delCA
Exon 11 Deletion c.3770_3771delAG 5 - Definitely pathogenic >0.99 Takahashi (1995) Cancer Res 55; 2998
BIC nucleic acid #: 3889_3890delAG
Exon 11 Deletion c.3771_3778del8 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 3890_3897del8
Exon 11 Indel c.3771_3772delGGinsC 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 3890_3891delGGinsC
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
Exon 11 Deletion c.3774_3775delGA 5 - Definitely pathogenic >0.99 Bonadona (2005) Genes Chromosomes Cancer 43; 404
BIC nucleic acid #: 3893_3894delGA
Exon 11 Deletion c.3779delT 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 3898delT
Exon 11 Nonsense c.3782T>G p.L1261* 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 3901T>G
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
Exon 11 Deletion c.3794delA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 3913delA
Exon 11 Missense c.3797G>C p.S1266T 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Insertion c.3813dupT p.N1272* 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3932dupT
Exon 11 Insertion c.3814_3815insT 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3933_3934insT
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
Exon 11 Deletion c.3820delG p.V1274* 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 3939delG
Exon 11 Insertion c.3820dupG 5 - Definitely pathogenic >0.99 Couch (1996) Hum Mutat 8; 8
BIC nucleic acid #: 3939dupG
Exon 11 Insertion c.3822_3823insT 5 - Definitely pathogenic >0.99 Mote (2004) Genes Chromosomes Cancer 39; 236
BIC nucleic acid #: 3941_3942insT
Exon 11 Indel c.3839_3843del5ins4 p.S1280* 5 - Definitely pathogenic >0.99 Presneau (1998) Hum Genet 103; 334
BIC nucleic acid #: 3958_3962del5ins4
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
Exon 11 Deletion c.3844delG 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 3963delG
Exon 11 Deletion c.3858_3861del4 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 3977_3980del4
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
Exon 11 Nonsense c.3868A>T p.K1290* 5 - Definitely pathogenic >0.99 Churpek (2015) BCRT 149, 31
BIC nucleic acid #: 3987A>T
Exon 11 Deletion c.3869_3870delAA 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1995) JAMA 273; 535
BIC nucleic acid #: 3988_3989delAA
Exon 11 Insertion c.3871_3872insC 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 3990_3991insC
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
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
Exon 11 Nonsense c.3895C>T p.Q1299* 5 - Definitely pathogenic >0.99 Kang (2002) Hum Mutat 20; 235
BIC nucleic acid #: 4014C>T
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
Exon 11 Nonsense c.3904G>T p.E1302* 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 4023G>T
Exon 11 Deletion c.3910delG 5 - Definitely pathogenic >0.99 Heidemann (2012) Breast Cancer Res Treat 134; 1229
BIC nucleic acid #: 4029delG
Exon 11 Deletion c.3914delA 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 4033delA
Exon 11 Deletion c.3916_3917delTT 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 4035_4036delTT
Exon 11 Deletion c.3926delA 5 - Definitely pathogenic >0.99 Muller (2004) Fam Cancer 3; 15
BIC nucleic acid #: 4045delA
Exon 11 Deletion c.3927_3930del4 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 4046_4049del4
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:
Exon 11 Deletion c.3931_3934del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4050_4053del4
Exon 11 Deletion c.3932delA 5 - Definitely pathogenic >0.99 De Benedetti (1996) Oncogene 13; 1353
BIC nucleic acid #: 4051delA
Exon 11 Nonsense c.3937C>T p.Q1313* 5 - Definitely pathogenic >0.99 Miki (1994) Science 266; 66
BIC nucleic acid #: 4056C>T
Exon 11 Deletion c.3947_3950del4 p.Phe1316* 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 4066_4069del4
Exon 11 Deletion c.3952_3955del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4071_4074del4
Exon 11 Deletion c.3967delC 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 4086delC
Exon 11 Nonsense c.3967C>T p.Q1323* 5 - Definitely pathogenic >0.99 Capalbo (2006) Ann Oncol 17S7; vii34
BIC nucleic acid #: 4086C>T
Exon 11 Deletion c.3968_3971del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4087_4090del4
Exon 11 Deletion c.3973delA 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 4092delA
Exon 11 Nonsense c.3979C>T p.Q1327* 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 4098C>T
Exon 11 Deletion c.3981delG 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 4100delG
Exon 11 Insertion c.3982dupT 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 4101dupT
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
Exon 11 Deletion c.3999delT 5 - Definitely pathogenic >0.99 Awadelkarim (2007) Breast Cancer Res Treat 102; 189
BIC nucleic acid #: 4118delT
Exon 11 Deletion c.4001delG 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 4120delG
Exon 11 Deletion c.4002_4005del4 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 4121_4124del4
Exon 11 Deletion c.4032_4034delTGA p.D1344del 5 - Definitely pathogenic >0.99 Tikhomirova (2007) Genetika 43; 1263
BIC nucleic acid #: 4151_4153delTGA
Exon 11 Deletion c.4035delA 5 - Definitely pathogenic >0.99 Gayther (1996) Am J Hum Genet 58; 451
BIC nucleic acid #: 4154delA
Exon 11 Deletion c.4038_4039delAA 5 - Definitely pathogenic >0.99 Salgado (2011) Oncol Lett 2; 807
BIC nucleic acid #: 4157_4158delAA
Exon 11 Deletion c.4038_4041del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4157_4160del4
Exon 11 Missense c.4039A>G p.R1347G 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 11 Deletion c.4041_4042delAG 5 - Definitely pathogenic >0.99 Eccles (1998) Br J Cancer 77; 2199
BIC nucleic acid #: 4160_4161delAG
Exon 11 Deletion c.4043delG 5 - Definitely pathogenic >0.99 S/NI Consortium (2003) Br J Cancer 88; 1256
BIC nucleic acid #: 4162delG
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:
Exon 11 Insertion c.4049dupG 5 - Definitely pathogenic >0.99 Kwong (2009) Breast Cancer Res Treat 117; 683
BIC nucleic acid #: 4168dupG
Exon 11 Insertion c.4052dupT 5 - Definitely pathogenic >0.99 Stuppia (2003) Hum Mutat 22; 178
BIC nucleic acid #: 4171dupT
Exon 11 Nonsense c.4052T>A p.L1351* 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 4171T>A
Exon 11 Nonsense c.4057G>T p.E1353* 5 - Definitely pathogenic >0.99 Alharbi (2005) Genome Res 15; 967
BIC nucleic acid #: 4176G>T
Exon 11 Deletion c.4057_4061del5 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 4176_4180del5
Exon 11 Deletion c.4062_4068del7 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 4181_4187del7
Exon 11 Deletion c.4065_4068del4 5 - Definitely pathogenic >0.99 Friedman (1994) Nat Genet 8; 399
BIC nucleic acid #: 4184_4187del4
Exon 11 Deletion c.4066_4069del4 5 - Definitely pathogenic >0.99 Jara (2004) Biol Res 37; 469
BIC nucleic acid #: 4185_4188del4
Exon 11 Nonsense c.4075C>T p.Q1359* 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 4194C>T
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:
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
Exon 11 Deletion c.4092_4093delCT 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 4211_4212delCT
Exon 11 Deletion c.4094delT p.L1365* 5 - Definitely pathogenic >0.99 Vaidyanathan (2009) J Biosci 34; 415
BIC nucleic acid #: 4213delT
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
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
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
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
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
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
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
Exon 12 Deletion c.4120_4121delAG 5 - Definitely pathogenic >0.99 Montagna (1996) Cancer Res 56; 5466
BIC nucleic acid #: 4239_4230delAG
Exon 12 Deletion c.4122_4123delTG 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 4241_4242delTG
Exon 12 Deletion c.4129delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4248delA
Exon 12 Deletion c.4136_4137delCT 5 - Definitely pathogenic >0.99 Li (2006) Int J Gynecol Cancer 16S1; 172
BIC nucleic acid #: 4255_4256delCT
Exon 12 Nonsense c.4148C>G p.S1383* 5 - Definitely pathogenic >0.99 Kang (2014) BCRT 144, 635
BIC nucleic acid #: 4267C>G
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
Exon 12 Deletion c.4161_4162delTC 5 - Definitely pathogenic >0.99 Hamann (1997) J Med Genet 34; 884
BIC nucleic acid #: 4280_4281delTC
Exon 12 Deletion c.4165_4166delAG p.S1389* 5 - Definitely pathogenic >0.99 Dong (1998) Hum Genet 103; 154
BIC nucleic acid #: 4284_4285delAG
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
Exon 12 Deletion c.4167delT 5 - Definitely pathogenic >0.99 Martin (2001) J Clin Oncol 19; 2247
BIC nucleic acid #: 4286delT
Exon 12 Deletion c.4167_4168delTG 5 - Definitely pathogenic >0.99 Fostira (2012) Breast Cancer Res Treat 134; 353
BIC nucleic acid #: 4286_4287delTG
Exon 12 Insertion c.4182_4183dupTC 5 - Definitely pathogenic >0.99 Yang (2011) JAMA 306; 1557
BIC nucleic acid #: 4301_4302dupTC
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
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
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
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
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
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
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
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
Exon 13 Deletion c.4195_4196delAC 5 - Definitely pathogenic >0.99 Diez (2003) Hum Mutat 22; 301
BIC nucleic acid #: 4314_4315delAC
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
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:
Exon 13 Deletion c.4210delC 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 4329delC
Exon 13 Nonsense c.4222C>T p.Q1408* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 4341C>T
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
Exon 13 Deletion c.4228delG 5 - Definitely pathogenic >0.99 Yang (2015) PLOS ONE 10,
BIC nucleic acid #: 4347delG
Exon 13 Nonsense c.4237G>T p.E1413* 5 - Definitely pathogenic >0.99 Melichar (2012) Acta Oncol 51; 136
BIC nucleic acid #: 4356G>T
Exon 13 Insertion c.4240dupC 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 4359dupC
Exon 13 Insertion c.4242_4243insT 5 - Definitely pathogenic >0.99 Purnomosari (2007) Breast Cancer Res Treat 106; 297
BIC nucleic acid #: 4361_4362insT
Exon 13 Nonsense c.4243G>T p.E1415* 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 4362G>T
Exon 13 Deletion c.4243delG 5 - Definitely pathogenic >0.99 Konecny (2011) Breast Cancer Res Treat 126; 119
BIC nucleic acid #: 4362delG
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
Exon 13 Nonsense c.4253T>G p.L1418* 5 - Definitely pathogenic >0.99 Keshavarzi (2012) Fam Cancer 11; 57
BIC nucleic acid #: 4372T>G
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:
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
Exon 13 Insertion c.4266dupG 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 4385dupG
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
Exon 13 Insertion c.4300dupA 5 - Definitely pathogenic >0.99 Arnold (1999) Hum Mutat 14; 333
BIC nucleic acid #: 4419dupA
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
Exon 13 Insertion c.4321dupG 5 - Definitely pathogenic >0.99 Pal (2005) Cancer 104; 2807
BIC nucleic acid #: 4440dupG
Exon 13 Nonsense c.4327C>T p.R1443* 5 - Definitely pathogenic >0.99 Castilla (1994) Nat Genet 8; 387
BIC nucleic acid #: 4446C>T
Exon 13 Deletion c.4331_4332delAT 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 4450_4451delAT
Exon 13 Insertion c.4335_4338dup4 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 4454_4457dup4
Exon 13 Nonsense c.4339C>T p.Q1447* 5 - Definitely pathogenic >0.99 Konecny (2007) Neoplasma 54; 137
BIC nucleic acid #: 4458C>T
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
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
Intron 13 Splice Site c.4357+1G>T 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967 Men‚ndez (2012) Breast Cancer Res Treat 132: 979 [Functional characterisation]
BIC nucleic acid #: 4476+1G>T
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
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
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
Intron 13 Insertion c.4357+1dupG Intron 13 5 - Definitely pathogenic >0.99 Houdayer (2012) HUM MUT 33, 1228
BIC nucleic acid #: 4476+1dupG
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
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
Exon 14 Deletion c.4373_4389del17 5 - Definitely pathogenic >0.99 Hegde (2000) Hum Mutat 16; 422
BIC nucleic acid #: 4492_4508del17
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
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
Exon 14 Deletion c.4391delC 5 - Definitely pathogenic >0.99 Yazici (2000) Br J Cancer 83; 737
BIC nucleic acid #: 4510delC
Exon 14 Indel c.4391_4393delCTAinsTT 5 - Definitely pathogenic >0.99 Rostagno (2003) J Hum Genet 48; 362
BIC nucleic acid #: 4510_4512delCTAinsTT
Exon 14 Insertion c.4391dupC 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 4510dupC
Exon 14 Deletion c.4393delA 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 4512delA
Exon 14 Nonsense c.4399C>T p.Q1467* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 4518C>T
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:
Exon 14 Indel c.4416_4417delTTinsG 5 - Definitely pathogenic >0.99 Hogervorst (2003) Cancer Res 63; 1449
BIC nucleic acid #: 4535_4536delTTinsG
Exon 14 Deletion c.4435delG 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 4554delG
Exon 14 Deletion c.4447delA 5 - Definitely pathogenic >0.99 Tommasi (2005) Mutat Res 578; 395
BIC nucleic acid #: 4566delA
Exon 14 Deletion c.4452_4455del4 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 4571_4574del4
Exon 14 Deletion c.4456delA 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 4575delA
Exon 14 Deletion c.4457delG 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 4576delG
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
Exon 14 Deletion c.4482_4483delAA 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 4601_4602delAA
Exon 14 Splice Site c.4484G>A 5 - Definitely pathogenic >0.99 Houdayer (2012) Hum Mutat 33, 1228
BIC nucleic acid #: 4603G>T
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
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
Intron 14 Splice Site c.4484+1G>T 5 - Definitely pathogenic >0.99 Men‚ndez (2012) Breast Cancer Res Treat 132; 979
BIC nucleic acid #: 4603+1G>T
Intron 14 Deletion c.4484+1delG 5 - Definitely pathogenic >0.99 Yazici (2000) Br J Cancer 83; 737
BIC nucleic acid #: 4603+1delG
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
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
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
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
Exon 15 Nonsense c.4503C>A p.C1501* 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 4622C>A
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
Exon 15 Deletion c.4516delG 5 - Definitely pathogenic >0.99 Janavicius (2009) Breast Cancer Res Treat 117; 467
BIC nucleic acid #: 4635delG
Exon 15 Nonsense c.4523G>A p.W1508* 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 4642G>A
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
Exon 15 Deletion c.4528delA 5 - Definitely pathogenic >0.99 Tommasi (2008) Mutat Res 644; 64
BIC nucleic acid #: 4647delA
Exon 15 Deletion c.4533_4534delCA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 4652_4653delCA
Exon 15 Missense c.4535G>T p.S1512I 1 - Not pathogenic or of no clinical significance 0.00000 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:
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
Exon 15 Deletion c.4570_4573del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4689_4692del4
Exon 15 Deletion c.4574_4575delAA 5 - Definitely pathogenic >0.99 Greenman (1998) Genes Chromosomes Cancer 21; 244
BIC nucleic acid #: 4693_4694delAA
Exon 15 Deletion c.4575_4585del11 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 4694_4704del11
Exon 15 Insertion c.4595_4596insCT 5 - Definitely pathogenic >0.99 Serova (1997) Am J Hum Genet 60; 486
BIC nucleic acid #: 4714_4715insCT
Exon 15 Deletion c.4597_4598delGA 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 4716_4717delGA
Exon 15 Missense c.4600G>A p.V1534M 1 - Not pathogenic or of no clinical significance 0.00010 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:
Exon 15 Nonsense c.4603G>T p.E1535* 5 - Definitely pathogenic >0.99 Schorge (2001) Gynecol Oncol 83; 383
BIC nucleic acid #: 4722G>T
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
Exon 15 Insertion c.4611_4612insG 5 - Definitely pathogenic >0.99 Donenberg (2011) Breast Cancer Res Treat 125; 591
BIC nucleic acid #: 4730_4731insG
Exon 15 Nonsense c.4612C>T p.Q1538* 5 - Definitely pathogenic >0.99 Tartaglini (1998) Hum Mutat S1; S163
BIC nucleic acid #: 4731C>T
Exon 15 Indel c.4617_4618delGGinsTT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4736_4737delGGinsTT
Exon 15 Nonsense c.4621G>T p.E1541* 5 - Definitely pathogenic >0.99 Futreal (1994) Science 266; 120
BIC nucleic acid #: 4740G>T
Exon 15 Deletion c.4625_4626delCT 5 - Definitely pathogenic >0.99 Evans (2003) J Med Genet 40; e107
BIC nucleic acid #: 4744_4745delCT
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:
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:
Exon 15 Deletion c.4646_4665del20 5 - Definitely pathogenic >0.99 Dobricic (2010) Cancer Genet Cytogenet 202; 27
BIC nucleic acid #: 4765_4784del20
Exon 15 Nonsense c.4656C>G p.Y1552* 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 4775C>G
Exon 15 Deletion c.4661delC 5 - Definitely pathogenic >0.99 Soegaard (2008) CCR 14, 3761
BIC nucleic acid #: 4780delC
Exon 15 Splice Site c.4675G>A 5 - Definitely pathogenic >0.99 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 4794G>A
Exon 15 Splice Site c.4675G>C 5 - Definitely pathogenic >0.99 Abkevich (2004) J Med Genet 41; 492
BIC nucleic acid #: 4794G>C
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
Exon 16 Nonsense c.4678G>T p.G1560* 5 - Definitely pathogenic >0.99 Schrader (2012) Obstet Gynecol 120; 235
BIC nucleic acid #: 4797G>T
Exon 16 Deletion c.4681delA 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 4800delA
Exon 16 Deletion c.4684_4685delCC 5 - Definitely pathogenic >0.99 Hansen (2010) Breast Cancer Res Treat epub; epub
BIC nucleic acid #: 4803_4804delCC
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
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
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:
Exon 16 Insertion c.4695dupA 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 4814dupA
Exon 16 Deletion c.4712_4716del5 5 - Definitely pathogenic >0.99 Silva (2014) BMC MG 15, 55
BIC nucleic acid #: 4831_4835del5
Exon 16 Deletion c.4724delC 5 - Definitely pathogenic >0.99 Calo (2006) Breast Cancer Res Treat 96; 97
BIC nucleic acid #: 4843delC
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
Exon 16 Deletion c.4745delA 5 - Definitely pathogenic >0.99 Moller (2007) Eur J Cancer 43; 1713
BIC nucleic acid #: 4864delA
Exon 16 Deletion c.4754_4755delCA 5 - Definitely pathogenic >0.99 Caligo (1996) Oncogene 13; 1483
BIC nucleic acid #: 4873_4874delCA
Exon 16 Insertion c.4757dupA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4876dupA
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
Exon 16 Deletion c.4764delT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 4883delT
Exon 16 Nonsense c.4787C>A p.S1596* 5 - Definitely pathogenic >0.99 Trujillano (2015) JMD 17, 162
BIC nucleic acid #: 4906C>A
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
Exon 16 Deletion c.4806delT 5 - Definitely pathogenic >0.99 Watson (2014) HUM MUT 35, 434
BIC nucleic acid #: 4925delT
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
Exon 16 Insertion c.4836dupG 5 - Definitely pathogenic >0.99 Hedau (2004) Breast Cancer Res Treat 88; 177
BIC nucleic acid #: 4955dupG
Exon 16 Missense c.4837A>G p.S1613G 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 16 Deletion c.4837delA 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 4956delA
Exon 16 Insertion c.4838_4839insC 5 - Definitely pathogenic >0.99 Reeves (2004) Int J Cancer 110; 677
BIC nucleic acid #: 4957_4958insC
Exon 16 Missense c.4840C>T p.P1614S 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 16 Deletion c.4873_4885del13 5 - Definitely pathogenic >0.99 Kroiss (2005) Hum Mutat 26; 583
BIC nucleic acid #: 4992_5004del13
Exon 16 Missense c.4883T>C p.M1628T 1 - Not pathogenic or of no clinical significance 0.00000 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:
Exon 16 Deletion c.4891delA 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 5010delA
Exon 16 Nonsense c.4903G>T p.E1635* 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 5022G>T
Exon 16 Deletion c.4905_4906delGA 5 - Definitely pathogenic >0.99 Miramar (2008) Breast Cancer Res Treat 112; 353
BIC nucleic acid #: 5024_5025delGA
Exon 16 Deletion c.4910delC 5 - Definitely pathogenic >0.99 Zhi (2002) Hum Mutat 20; 474
BIC nucleic acid #: 5029delC
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:
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
Exon 16 Deletion c.4936delG 5 - Definitely pathogenic >0.99 King (2001) JAMA 286; 2251
BIC nucleic acid #: 5055delG
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
Exon 16 Deletion c.4945delA 5 - Definitely pathogenic >0.99 Gayther (1999) Am J Hum Genet 65; 1021
BIC nucleic acid #: 5064delA
Exon 16 Indel c.4945_4947delAGAins4 5 - Definitely pathogenic >0.99 Bonadona (2005) Genes Chromosomes Cancer 43; 404
BIC nucleic acid #: 5064delAGAins4
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:
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:
Exon 16 Deletion c.4963_4981del19 5 - Definitely pathogenic >0.99 Santarosa (1998) Int J Cancer 78; 581
BIC nucleic acid #: 5082_5100del19
Exon 16 Deletion c.4964_4979del16 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 5083_5098del16
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
Exon 16 Deletion c.4966_4984del19 5 - Definitely pathogenic >0.99 Castilla (1994) Nat Genet 8; 387
BIC nucleic acid #: 5085_5103del19
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Exon 17 Deletion c.5005delG 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 5124delG
Exon 17 Deletion c.5026_5036del11 5 - Definitely pathogenic >0.99 Vehmanen (1997) Hum Mol Genet 6; 2309
BIC nucleic acid #: 5145_5155del11
Exon 17 Insertion c.5027dupT 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 5146dupT
Exon 17 Deletion c.5030delC 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5149delC
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
Exon 17 Deletion c.5035delC p.L1679* 5 - Definitely pathogenic >0.99 Manguoglu (2010) Cancer Genet Cytogenet 203; 230
BIC nucleic acid #: 5154delC
Exon 17 Deletion c.5035_5039del5 5 - Definitely pathogenic >0.99 Musolino (2005) Tumori 91; 505
BIC nucleic acid #: 5154_5158del5
Exon 17 Insertion c.5038_5042dup5 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5157_5161dup5
Exon 17 Deletion c.5040delT 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 5159delT
Exon 17 Missense c.5044G>A p.E1682K 1 - Not pathogenic or of no clinical significance 0.00010 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:
Exon 17 Nonsense c.5047G>T p.E1683* 5 - Definitely pathogenic >0.99 Borg (1999) Dis Markers 15; 79
BIC nucleic acid #: 5166G>T
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:
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:
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
Exon 17 Missense c.5066T>G p.M1689R 4 - Likely pathogenic 0.9889 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5185T>G
PRIOR
  • Position & Align-GVGD: 0.66
  • Splicing: 0.01
  • Combined: 0.66
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 30.9
  • Co-occurrence: 1.48
  • Functional assay:
  • Products of LRs:
Exon 17 Nonsense c.5068A>T p.K1690* 5 - Definitely pathogenic >0.99 Robertson (2012) Br J Cancer 106; 1234
BIC nucleic acid #: 5187A>T
Exon 17 Insertion c.5071dupA 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2011) Hum Mutat 32; 325
BIC nucleic acid #: 5190dupA
Exon 17 Splice Site c.5074G>A 5 - Definitely pathogenic >0.99 Bergthorsson (1998) Hum Mutat S1; S195 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 5193G>A
Exon 17 Splice Site c.5074G>C 5 - Definitely pathogenic >0.99 Thomassen (2012) Breast Cancer Res Treat 132; 1009 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 5193G>C
Exon 17 Splice Site c.5074G>T 5 - Definitely pathogenic >0.99 Abkevich (2004) J Med Genet 41; 492
BIC nucleic acid #: 5193G>T
Intron 17 Splice Site c.5074+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 #: 5193+1G>A
Intron 17 Splice Site c.5074+1G>T 5 - Definitely pathogenic >0.99 Choi (2004) J Clin Oncol 22; 1638 Brose (2004) Genet Test 8; 133
BIC nucleic acid #: 5193+1G>T
Intron 17 Splice Site c.5074+3A>G 5 - Definitely pathogenic >0.99 Men‚ndez (2012) Breast Cancer Res Treat 132; 979
BIC nucleic acid #: 5193+3A>G
Intron 17 Splice Site c.5074+2T>C 5 - Definitely pathogenic >0.99 Trujillano (2015) J Mol Diagn 17, 162
BIC nucleic acid #: 5193+2T>C
Intron 17 Splice Site c.5075-8T>G 5 - Definitely pathogenic >0.99 Houdayer (2012) Hum Mutat 33, 1228
BIC nucleic acid #: 5194-8T>G
Intron 17 Splice Site c.5075-1G>C 5 - Definitely pathogenic >0.99 Steffensen (2014) Eur J Hum Genet 22, 1362
BIC nucleic acid #: 5914-1G>C
Intron 17 Splice Site c.5075-2A>C 5 - Definitely pathogenic >0.99 Andersen (1998) Hum Mutat 11; 166
BIC nucleic acid #: 5194-2A>C
Intron 17 Splice Site c.5075-2A>G 5 - Definitely pathogenic >0.99 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 5194-2A>G
Intron 17 Splice Site c.5075-2A>T 5 - Definitely pathogenic >0.99 De Silva (2008) BMC Cancer 8; 214
BIC nucleic acid #: 5194-2A>T
Intron 17 Splice Site c.5075-1G>A 5 - Definitely pathogenic >0.99 Phelan (2002) Hum Mutat 20; 352
BIC nucleic acid #: 5194-1G>A
Intron 17 Splice Site c.5075-1G>T 5 - Definitely pathogenic >0.99 Song (2005) Zhonghua Yi Xue Za Zhi 85; 3030
BIC nucleic acid #: 5194-1G>T
Exon 18 Deletion c.5075_5078del4 5 - Definitely pathogenic >0.99 Litton (2012) Cancer 118; 321
BIC nucleic acid #: 5194_5197del4
Exon 18 Indel c.5077_5080del4ins10 p.A1693F ins IL E1694Q 5 - Definitely pathogenic >0.99 Hardouin (2000) Hum Mutat 17; 154
BIC nucleic acid #: 5196_5199del4ins10
Exon 18 Deletion c.5078_5080delCTG p.A1693del 5 - Definitely pathogenic >0.99 Diez (2003) Hum Mutat 22; 301
BIC nucleic acid #: 5197_5199delCTG
Exon 18 Nonsense c.5080G>T p.E1694* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242 more
BIC nucleic acid #: 5199G>T
Exon 18 Deletion c.5084_5085delTT 5 - Definitely pathogenic >0.99 Konecny (2011) Breast Cancer Res Treat 126; 119
BIC nucleic acid #: 5203_5204delTT
Exon 18 Missense c.5095C>T p.R1699W 5 - Definitely pathogenic 1.0000 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5214C>T
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.01
  • Combined: 0.81
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 21877.62
  • Co-occurrence: 1.82
  • Functional assay:
  • Products of LRs:
Exon 18 Deletion c.5102_5103delTG 5 - Definitely pathogenic >0.99 Kang (2002) Hum Mutat 20; 235
BIC nucleic acid #: 5221_5222delTG
Exon 18 Nonsense c.5104A>T p.K1702* 5 - Definitely pathogenic >0.99 Safra (2013) ANN ONCO 24S8, viii63
BIC nucleic acid #: 5223A>T
Exon 18 Deletion c.5106delA 5 - Definitely pathogenic >0.99 Nedelcu (2002) Eur J Hum Genet 10; 150
BIC nucleic acid #: 5225delA
Exon 18 Nonsense c.5109T>G p.Y1703* 5 - Definitely pathogenic >0.99 Schroeder (2010) Breast Cancer Res Treat 122; 287
BIC nucleic acid #: 5228T>G
Exon 18 Deletion c.5112delT 5 - Definitely pathogenic >0.99 Rodriguez (2008) Fam Cancer 7; 275
BIC nucleic acid #: 5231delT
Exon 18 Missense c.5117G>C p.G1706A 1 - Not pathogenic or of no clinical significance 0.00005 Lovelock PK et al., J Med Genet, 43:74-83, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5236G>C
PRIOR
  • Position & Align-GVGD: 0.66
  • Splicing: 0.01
  • Combined: 0.66
Observational data
  • Segregation: 0.00044
  • Pathology: 0.058
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
Exon 18 Missense c.5123C>A p.A1708E 5 - Definitely pathogenic 1.0000 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5242C>A
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.01
  • Combined: 0.81
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 1.66E+11
  • Co-occurrence: 12.59
  • Functional assay:
  • Products of LRs:
Exon 18 Missense c.5123C>T p.A1708V 3 - Uncertain 0.7498 Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5242C>T
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.01
  • Combined: 0.81
Observational data
  • Segregation: 0.227
  • Pathology: 2.95
  • Sum Family:
  • Co-occurrence: 1.05
  • Functional assay:
  • Products of LRs:
Exon 18 Deletion c.5126delG 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 5245delG
Exon 18 Nonsense c.5128G>T p.G1710* 5 - Definitely pathogenic >0.99 Fricker (2000) Bull Cancer 87; 739
BIC nucleic acid #: 5247G>T
Exon 18 Nonsense c.5136G>A p.W1712* 5 - Definitely pathogenic >0.99 Ozcelik (2003) J Med Genet 40; e91
BIC nucleic acid #: 5255G>A
Exon 18 Deletion c.5137delG 5 - Definitely pathogenic >0.99 Struewing (1995) Am J Hum Genet 57; 1
BIC nucleic acid #: 5256delG
Exon 18 Missense c.5143A>C p.S1715R 5 - Definitely pathogenic 0.9948 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5262A>C
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.01
  • Combined: 0.81
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 36.31
  • Co-occurrence: 1.23
  • Functional assay:
  • Products of LRs:
Exon 18 Nonsense c.5148T>G p.Y1716* 5 - Definitely pathogenic >0.99 Vaidyanathan (2009) J Biosci 34; 415
BIC nucleic acid #: 5267T>G
Intron 18 Splice Site c.5152+1G>A 5 - Definitely pathogenic >0.99 Kang (2012) Breast Cancer Res Treat 134; 1189
BIC nucleic acid #: 5271+1G>A
Intron 18 Splice Site c.5152+1G>C 5 - Definitely pathogenic >0.99 Dong (1998) Hum Genet 103; 154 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 5271+1G>C
Intron 18 Splice Site c.5152+1G>T 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428 Lindor (2012) Hum Mutat 33: 8 [Additional report]
BIC nucleic acid #: 5271+1G>T
Intron 18 Splice Site c.5152+5G>A 5 - Definitely pathogenic >0.99 Campos (2003) Hum Mutat 22; 337
BIC nucleic acid #: 5271+5G>A
Intron 18 Splice Site c.5153-1G>A 5 - Definitely pathogenic >0.99 Osorio (2000) Br J Cancer 82; 1266 Sanz (2010) Clin Cancer Res 16: 1957 [Functional characterisation]
BIC nucleic acid #: 5272-1G>A
Intron 18 Splice Site c.5153-1G>C 5 - Definitely pathogenic >0.99 Johannsson (1996) Am J Hum Genet 58; 441 Lindor (2012) Hum Mutat 33: 8 [Additional report]
BIC nucleic acid #: 5272-1G>C
Intron 18 Splice Site c.5153-1G>T 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 5272-1G>T
Intron 18 Deletion c.5153-2delA 5 - Definitely pathogenic >0.99 Kiechle (2000) Hum Mutat 16; 529
BIC nucleic acid #: 5272-2delA
Exon 19 Nonsense c.5153G>A p.W1718* 5 - Definitely pathogenic >0.99 Dong (1998) Hum Genet 103; 154
BIC nucleic acid #: 5272G>A
Exon 19 Nonsense c.5154G>A p.W1718* 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242
BIC nucleic acid #: 5273G>A
Exon 19 Missense c.5158A>G p.T1720A 1 - Not pathogenic or of no clinical significance 0.00000 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5277A>G
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.01
  • Combined: 0.03
Observational data
  • Segregation: 0.00001
  • Pathology:
  • Sum Family: 5.89E-07
  • Co-occurrence: 3.09
  • Functional assay:
  • Products of LRs:
Exon 19 Nonsense c.5161C>T p.Q1721* 5 - Definitely pathogenic >0.99 Laitman (2010) Breast Cancer Res Treat 127; 489
BIC nucleic acid #: 5280C>T
Exon 19 Deletion c.5162delA 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 5281delA
Exon 19 Nonsense c.5173G>T p.E1725* 5 - Definitely pathogenic >0.99 Merajver (1995) Nat Genet 9; 439
BIC nucleic acid #: 5292G>T
Exon 19 Deletion c.5177_5178delGA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 5296_5297delGA
Exon 19 Deletion c.5177_5180del4 5 - Definitely pathogenic >0.99 Gao (1997) Am J Hum Genet 60; 1233
BIC nucleic acid #: 5296_5299del4
Exon 19 Deletion c.5179_5192del14 5 - Definitely pathogenic >0.99 Smith (2001) Gynecol Oncol 83; 586
BIC nucleic acid #: 5298_5311del14
Exon 19 Nonsense c.5179A>T p.K1727* 5 - Definitely pathogenic >0.99 Gayther (1995) Nat Genet 11; 428
BIC nucleic acid #: 5298A>T
Exon 19 Deletion c.5182delA 5 - Definitely pathogenic >0.99 Walsh (2011) Proc Natl Acad Sci U S A 108; 18032
BIC nucleic acid #: 5301delA
Intron 19 Deletion c.5193+1delG 5 - Definitely pathogenic >0.99 Heidemann (2012) Breast Cancer Res Treat epub; epub
BIC nucleic acid #: 5312+1delG
Intron 19 Deletion c.5193+2delT 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 5312+2delT
Intron 19 Splice Site c.5193+1G>C 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 5312+1G>C
Intron 19 Splice Site c.5193+2T>G 5 - Definitely pathogenic >0.99 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 5312+2T>G
Intron 19 Insertion c.5193+2dupT 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 5312+2dupT
Intron 19 Splice Site c.5193+1G>A 5 - Definitely pathogenic >0.99 Churpek (2014) Breast Cancer Res Treat epub, epub
BIC nucleic acid #: 5312+1G>A
Intron 19 Splice Site c.5193+1G>T 5 - Definitely pathogenic >0.99 Seifert (2016) Clin Cancer Res epub, epub
BIC nucleic acid #: 5312+1G>T
Intron 19 Splice Site c.5194-2A>C 5 - Definitely pathogenic >0.99 Robertson (2012) Br J Cancer 106; 1234
BIC nucleic acid #: 5313-2A>C
Intron 19 Splice Site c.5194-2A>G 5 - Definitely pathogenic >0.99 Esteban-Cardenosa (2004) Clin Chem 50; 313
BIC nucleic acid #: 5313-2A>G
Intron 19 Splice Site c.5194-1G>T 5 - Definitely pathogenic >0.99 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 5313-1G>T
Exon 20 Deletion c.5207delT 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 5326delT
Exon 20 Missense c.5212G>A p.G1738R 5 - Definitely pathogenic 0.9980 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5331G>A
PRIOR
  • Position & Align-GVGD: 0.81
  • Splicing: 0.01
  • Combined: 0.81
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 87.1
  • Co-occurrence: 1.32
  • Functional assay:
  • Products of LRs:
Exon 20 Deletion c.5213_5215delGAG p.G1738del 5 - Definitely pathogenic >0.99 Abkevich (2004) J Med Genet 41; 492
BIC nucleic acid #: 5332_5334delGAG
Exon 20 Deletion c.5229_5230delAA 5 - Definitely pathogenic >0.99 Greenman (1998) Genes Chromosomes Cancer 21; 244
BIC nucleic acid #: 5348_5349delAA
Exon 20 Deletion c.5230delA 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 5349delA
Exon 20 Deletion c.5231delG 5 - Definitely pathogenic >0.99 Moatter (2011) J Coll Physicians Surg Pak 21; 680
BIC nucleic acid #: 5350delG
Exon 20 Indel c.5232_5238del7ins12 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 5351_5357del7ins12
Exon 20 Insertion c.5247_5248insT 5 - Definitely pathogenic >0.99 Cecener (2014) CANCER INV 32, 375
BIC nucleic acid #: 5366_5367insT
Exon 20 Nonsense c.5251C>T p.R1751* 5 - Definitely pathogenic >0.99 Vehmanen (1997) Hum Mol Genet 6; 2309
BIC nucleic acid #: 5370C>T
Exon 20 Missense c.5252G>A p.R1751Q 1 - Not pathogenic or of no clinical significance 0.00021 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5371G>A
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.01
  • Combined: 0.03
Observational data
  • Segregation: 2
  • Pathology:
  • Sum Family: 0.00219
  • Co-occurrence: 1.55
  • Functional assay:
  • Products of LRs:
Exon 20 Insertion c.5257dupA 5 - Definitely pathogenic >0.99 Rashid (2006) Int J Cancer 119; 2832
BIC nucleic acid #: 5376dupA
Exon 20 Nonsense c.5260G>T p.E1754* 5 - Definitely pathogenic >0.99 Valarmathi (2003) Hum Mutat 21; 98
BIC nucleic acid #: 5379G>T
Exon 20 Nonsense c.5266C>T p.Q1756* 5 - Definitely pathogenic >0.99 Stoppa-Lyonnet (1997) Am J Hum Genet 60; 1021
BIC nucleic acid #: 5385C>T
Exon 20 Deletion c.5266delC 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5385delC
Exon 20 Insertion c.5266dupC 5 - Definitely pathogenic >0.99 Simard (1994) Nat Genet 8; 392
BIC nucleic acid #: 5385dupC
Exon 20 Deletion c.5270_5276del7 5 - Definitely pathogenic >0.99 Peelen (1997) Am J Hum Genet 60; 1041
BIC nucleic acid #: 5389_5395del7
Exon 20 Nonsense c.5272A>T p.R1758* 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 5391A>T
Intron 20 Splice Site c.5277+1G>A 5 - Definitely pathogenic >0.99 de la Hoya (2001) Int J Cancer 91; 137 Sanz (2010) Clin Cancer Res 16: 1957 [Functional characterisation]
BIC nucleic acid #: 5396+1G>A
Intron 20 Splice Site c.5277+1G>C 5 - Definitely pathogenic >0.99 de la Hoya (2002) Int J Cancer 97; 466
BIC nucleic acid #: 5396+1G>C
Intron 20 Splice Site c.5278-2A>T 5 - Definitely pathogenic >0.99 Jang (2012) J Hum Genet 57; 212
BIC nucleic acid #: 5397-2A>T
Intron 20 Splice Site c.5278-1G>A 5 - Definitely pathogenic >0.99 Shattuck-Eidens (1997) JAMA 278; 1242 Wappenschmidt (2012) PLoS One 7; e50800
BIC nucleic acid #: 5397-1G>A
Intron 20 Splice Site c.5278-1G>C 5 - Definitely pathogenic >0.99 de la Hoya (2002) Int J Cancer 97; 466 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 5397-1G>C
Intron 20 Splice Site c.5278-1G>T 5 - Definitely pathogenic >0.99 Hamann (1997) J Med Genet 34; 884
BIC nucleic acid #: 5397-1G>T
Intron 20 Deletion c.5278-2delA 5 - Definitely pathogenic >0.99 Colombo (2013) PLoS One 8; e57173
BIC nucleic acid #: 5397-2delA
Exon 21 Deletion c.5289delG 5 - Definitely pathogenic >0.99 De Silva (2008) BMC Cancer 8; 214
BIC nucleic acid #: 5408delG
Exon 21 Insertion c.5289dupG 5 - Definitely pathogenic >0.99 Peyrat (1998) Eur J Cancer Prev 7; 57
BIC nucleic acid #: 5408dupG
Exon 21 Missense c.5291T>C p.L1764P 5 - Definitely pathogenic 0.9930 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5410T>C
PRIOR
  • Position & Align-GVGD: 0.29
  • Splicing: 0.01
  • Combined: 0.29
Observational data
  • Segregation: 7.76
  • Pathology:
  • Sum Family: 36.31
  • Co-occurrence: 1.23
  • Functional assay:
  • Products of LRs:
Exon 21 Nonsense c.5293G>T p.E1765* 5 - Definitely pathogenic >0.99 Curci (2002) Int J Oncol 20; 963
BIC nucleic acid #: 5412G>T
Exon 21 Missense c.5297T>G p.I1766S 5 - Definitely pathogenic 0.9963 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5416T>G
PRIOR
  • Position & Align-GVGD: 0.66
  • Splicing: 0.01
  • Combined: 0.66
Observational data
  • Segregation: 7.41
  • Pathology:
  • Sum Family: 12.88
  • Co-occurrence: 1.45
  • Functional assay:
  • Products of LRs:
Exon 21 Nonsense c.5307T>A p.Y1769* 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 5426T>A
Exon 21 Deletion c.5310delG 5 - Definitely pathogenic >0.99 Evans (2003) J Med Genet 40; e107
BIC nucleic acid #: 5429delG
Exon 21 Insertion c.5310dupG 5 - Definitely pathogenic >0.99 Ahmad (2012) Clin Genet 82; 594
BIC nucleic acid #: 5429dupG
Exon 21 Deletion c.5315delT 5 - Definitely pathogenic >0.99 Dong (1998) Hum Genet 103; 154
BIC nucleic acid #: 5434delT
Exon 21 Insertion c.5319dupC 5 - Definitely pathogenic >0.99 Castilla (1994) Nat Genet 8; 387
BIC nucleic acid #: 5438dupC
Exon 21 Deletion c.5320_5321delAA 5 - Definitely pathogenic >0.99 Couch (1997) N Engl J Med 336; 1409
BIC nucleic acid #: 5439_5440delAA
Exon 21 Deletion c.5323_5324delAT 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 5442_5443delAT
Exon 21 Missense c.5324T>A p.M1775K 5 - Definitely pathogenic 0.9978 Tischkowitz M et al., Eur J Hum Genet, 16:820-832, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5443T>A
PRIOR
  • Position & Align-GVGD: 0.66
  • Splicing: 0.01
  • Combined: 0.66
Observational data
  • Segregation: 3.052
  • Pathology: 77
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Products of LRs: