BRCA2 Database

  • Genebank sequence BRCA2: NG-012772.3 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.
  • 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.2T>A p.M1K 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 230T>A
Exon 2 Nonsense c.2T>C p.M1T 5 - Definitely pathogenic >0.99 Jakubowska (2003) EJHG 11, 955
BIC nucleic acid #: 230T>C
Exon 2 Nonsense c.2T>G p.M1R 5 - Definitely pathogenic >0.99 Santos (2014) JMD 16, 324
BIC nucleic acid #: 230T>G
Exon 2 Deletion c.5delC 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 233delC
Exon 2 Nonsense c.10G>T p.G4* 5 - Definitely pathogenic >0.99 Konstantopoulou (2008) Breast Cancer Res Treat 107; 431
BIC nucleic acid #: 238G>T
Exon 2 Deletion c.22_23delAG 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 250_251delAG
Exon 2 Deletion c.26delC 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 254delC
Exon 2 Insertion c.36dupT 5 - Definitely pathogenic >0.99 Vaziri (2000) Hum Mutat 17; 74
BIC nucleic acid #: 264dupT
Exon 2 Deletion c.37_44del8 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 265_272del8
Exon 2 Deletion c.51_52delAC 5 - Definitely pathogenic >0.99 Tavtigian (1996) Nat Genet 12; 333 Kuznetsov (2008) Nat Med 14: 875 [Functional characterisation]
BIC nucleic acid #: 279_280delAC
Exon 2 Insertion c.51dupA 5 - Definitely pathogenic >0.99 Diez (2010) Breast Cancer Res Treat 121; 221
BIC nucleic acid #: 279dupA
Exon 2 Deletion c.52_61de10 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 280_289del10
Exon 2 Missense c.53G>A p.R18H 1 - Not pathogenic or of no clinical significance 0.00035 Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 281G>A
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.01
  • Combined: 0.03
Observational data
  • Segregation: 0.0199
  • Pathology: 0.5
  • Sum Family:
  • Co-occurrence: 1.1329
  • Functional assay:
  • Products of LRs:
Intron 2 Splice Site c.67+1G>A 5 - Definitely pathogenic >0.99 Bonatti (2006) Cancer Genet Cytogenet 170; 93
BIC nucleic acid #: 295+1G>A
Intron 2 Splice Site c.67+1G>T 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 295+1G>T
Intron 2 Splice Site c.67+2T>A 5 - Definitely pathogenic >0.99 Seymour (2008) Breast Cancer Res Treat 112; 343
BIC nucleic acid #: 295+2T>A
Intron 2 Splice Site c.67+2T>C 5 - Definitely pathogenic >0.99 Diez (2003) Hum Mutat 22; 301 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 295+2T>C
Exon 3 Nonsense c.71T>A p.L24* 5 - Definitely pathogenic >0.99 Muller (2011) BMC Med Genet 12;
BIC nucleic acid #: 299T>A
Exon 3 Deletion c.71delT 5 - Definitely pathogenic >0.99 Serova-Sinilnikova (1997) Am J Hum Genet 60; 1236
BIC nucleic acid #: 299delT
Exon 3 Deletion c.86_87delTT 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 314_315delTT
Exon 3 Nonsense c.92G>A p.W31* 5 - Definitely pathogenic >0.99 Schrader (2012) Obstet Gynecol 120; 235
BIC nucleic acid #: 320G>A
Exon 3 Nonsense c.93G>A p.W31* 5 - Definitely pathogenic >0.99 Torres (2007) Breast Cancer Res Treat 103; 225
BIC nucleic acid #: 321G>A
Exon 3 Nonsense c.97G>T p.E33* 5 - Definitely pathogenic >0.99 Capalbo (2006) Ann Oncol 17S7; vii34
BIC nucleic acid #: 325G>T
Exon 3 Nonsense c.100G>T p.E34* 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 328G>T
Exon 3 Deletion c.115delG 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 343delG
Exon 3 Missense c.125A>G p.Y42C 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 #: 353A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.00000067
  • Pathology:
  • Sum Family:
  • Co-occurrence: 8.9E-11
  • Functional assay:
  • Products of LRs:
Exon 3 Nonsense c.133G>T p.E45* 5 - Definitely pathogenic >0.99 Schoumacher (2001) Swiss Med Wkly 131; 223
BIC nucleic acid #: 361G>T
Exon 3 Nonsense c.145G>T p.E49* 5 - Definitely pathogenic >0.99 Bergthorsson (2001) J Med Genet 38; 361 more
BIC nucleic acid #: 373G>T
Exon 3 Deletion c.151delG 5 - Definitely pathogenic >0.99 Tai (2007) J Natl Cancer Inst 99; 1811
BIC nucleic acid #: 379delG
Exon 3 Deletion c.162_165del4 5 - Definitely pathogenic >0.99 Couch (2007) Cancer Epidemiol Biomarkers Prev 16; 342
BIC nucleic acid #: 390_393del4
Exon 3 Missense c.167A>C p.N56T 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 #: 395A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.0011
  • Pathology:
  • Sum Family: 0.10715
  • Co-occurrence: 1.28825
  • Functional assay:
  • Products of LRs:
Exon 3 Insertion c.170dupA 5 - Definitely pathogenic >0.99 Kiechle (2000) Hum Mutat 16; 529
BIC nucleic acid #: 398dupA
Exon 3 Nonsense c.171C>G p.Y57* 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 399C>G
Exon 3 Nonsense c.172G>T p.E58* 5 - Definitely pathogenic >0.99 Muller (2011) BMC Med Genet 12;
BIC nucleic acid #: 400G>T
Exon 3 Nonsense c.196C>T p.Q66* 5 - Definitely pathogenic >0.99 Jang (2012) J Hum Genet 57; 212
BIC nucleic acid #: 424C>T
Exon 3 Deletion c.204delA 5 - Definitely pathogenic >0.99 Santarosa (1999) Int J Cancer 83; 5
BIC nucleic acid #: 432delA
Exon 3 Indel c.215delAinsTT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 443delAinsTT
Exon 3 Missense c.223G>C p.A75P 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 #: 451G>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.00309
  • Pathology:
  • Sum Family: 0.0003
  • Co-occurrence: 0.48978
  • Functional assay:
  • Products of LRs:
Exon 3 Nonsense c.244A>T p.K82* 5 - Definitely pathogenic >0.99 Muller (2011) BMC Med Genet 12;
BIC nucleic acid #: 472A>T
Exon 3 Insertion c.246dupA 5 - Definitely pathogenic >0.99 Capalbo (2006) Ann Oncol 17S7; vii34
BIC nucleic acid #: 474dupA
Exon 3 Nonsense c.250C>T p.Q84* 5 - Definitely pathogenic >0.99 Willems (2008) Clin Cancer Res 14; 2953
BIC nucleic acid #: 478C>T
Exon 3 Deletion c.262_263delCT 5 - Definitely pathogenic >0.99 Gorski (2004) Int J Cancer 110; 683
BIC nucleic acid #: 490_491delCT
Exon 3 Deletion c.273_285del13 5 - Definitely pathogenic >0.99 Akbari (2008) Oncogene 27; 1290
BIC nucleic acid #: 501_513del13
Exon 3 Nonsense c.273C>A p.Y91* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 501C>A
Exon 3 Nonsense c.273C>G p.Y91* 5 - Definitely pathogenic >0.99 Muller (2011) BMC Med Genet 12;
BIC nucleic acid #: 501C>G
Exon 3 Nonsense c.274C>T p.Q92* 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 502C>T
Exon 3 Insertion c.276dupA 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 504dupA
Exon 3 Nonsense c.289G>T p.E97* 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 517G>T
Exon 3 Insertion c.306dupA 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 534dupA
Exon 3 Nonsense c.314T>G p.L105* 5 - Definitely pathogenic >0.99 Thiffault (2004) Br J Cancer 90; 483
BIC nucleic acid #: 542T>G
Intron 3 Splice Site c.316+5G>A 5 - Definitely pathogenic >0.99 Thomassen (2012) Breast Cancer Res Treat 132; 1009
BIC nucleic acid #: 544+5G>A
Intron 3 Splice Site c.316+5G>C 5 - Definitely pathogenic >0.99 Bonnet (2008) J Med Genet 45; 438 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 544+5G>C
Exon 4 Deletion c.345_346delAA 5 - Definitely pathogenic >0.99 Zugazagoitia (2014) BCRT 148, 415
BIC nucleic acid #: 573_574delAA
Exon 4 Deletion c.364delA 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 592delA
Exon 4 Deletion c.370delA 5 - Definitely pathogenic >0.99 Esteban Cardeñosa (2010) Breast Cancer Res Treat 121; 257
BIC nucleic acid #: 598delA
Exon 4 Nonsense c.396T>A p.C132* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 624T>A
Exon 4 Deletion c.410delC 5 - Definitely pathogenic >0.99 Claus (2005) JAMA 293; 964
BIC nucleic acid #: 638delC
Exon 4 Splice Site c.425G>T 5 - Definitely pathogenic >0.99 Brandão (2011) Breast Cancer Res Treat 129; 971
BIC nucleic acid #: 653G>T
Exon 4 Deletion c.379delG 5 - Definitely pathogenic >0.99 Cunningham (2014) SCI REP 4, 4026
BIC nucleic acid #: 607delG
Intron 4 Splice Site c.426-2A>T 5 - Definitely pathogenic >0.99 Houdayer (2012) Hum Mutat 33, 1228
BIC nucleic acid #: 654-2A>T
Exon 5 Insertion c.428dupC 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 656dupC
Exon 5 Deletion c.438delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 666delA
Exon 5 Nonsense c.439C>T p.Q147* 5 - Definitely pathogenic >0.99 Infante (2006) J Hum Genet 51; 611 more
BIC nucleic acid #: 667C>T
Exon 5 Deletion c.462_463delAA 5 - Definitely pathogenic >0.99 Ligtenberg (1999) Br J Cancer 79; 1475
BIC nucleic acid #: 690_691delAA
Exon 5 Deletion c.464_468del5 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 692_696del5
Exon 5 Insertion c.466_467insT 5 - Definitely pathogenic >0.99 Tereschenko (2002) Hum Mutat 19; 184
BIC nucleic acid #: 694_695insT
Exon 5 Deletion c.469_470delAA 5 - Definitely pathogenic >0.99 Adem (2003) Cancer 97; 1
BIC nucleic acid #: 697_698delAA
Exon 5 Deletion c.470_474del5 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 698_702del5
Exon 5 Splice Site c.475G>A 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 703G>A
Intron 5 Splice Site c.475+1G>A 5 - Definitely pathogenic >0.99 Colombo (2013) PLoS One 8; e57173
BIC nucleic acid #: 703+1G>A
Intron 5 Splice Site c.475+1G>T 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 703+1G>T
Intron 5 Splice Site c.475+3A>G 5 - Definitely pathogenic >0.99 Wagner (1999) Hum Mol Genet 8; 413
BIC nucleic acid #: 703+3A>G
Intron 5 Deletion c.475+4delT 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 703+4delT
Intron 5 Splice Site c.476-2A>G 5 - Definitely pathogenic >0.99 Easton (2007) Am J Hum Genet 81; 873 Colombo (2013) PLoS One 8: e57173 [Functional characterisation]
BIC nucleic acid #: 704-2A>G
Intron 5 Splice Site c.476-1G>A 5 - Definitely pathogenic >0.99 Meyer (2012) PLoS One 7; e38361
BIC nucleic acid #: 704-1G>A
Exon 6 Deletion c.488_489delGT 5 - Definitely pathogenic >0.99 Muller (2011) BMC Med Genet 12;
BIC nucleic acid #: 716_717delGT
Exon 6 Missense c.502C>A p.P168T 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 #: 730C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.01905
  • Co-occurrence: 0.08128
  • Functional assay:
  • Products of LRs:
Exon 6 Splice Site c.516G>A 5 - Definitely pathogenic >0.99 Hansen (2009) Breast Cancer Res Treat 119; 547
BIC nucleic acid #: 744G>A
Exon 6 Insertion c.516_516+1insC 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 744_744+1insC
Intron 6 Insertion c.516+1dupG 5 - Definitely pathogenic >0.99 Jakubowska (2003) Eur J Hum Genet 11; 955
BIC nucleic acid #: 744+1dupG
Intron 6 Splice Site c.516+1G>A 5 - Definitely pathogenic >0.99 Claes (2003) Genes Chromosomes Cancer 37; 314
BIC nucleic acid #: 744+1G>A
Intron 6 Splice Site c.516+1G>C 5 - Definitely pathogenic >0.99 Capalbo (2006) Ann Oncol 17S7; vii34
BIC nucleic acid #: 744+1G>C
Intron 6 Splice Site c.516+1G>T 5 - Definitely pathogenic >0.99 Whiley (2011) Hum Mutat 32: 678 [Functional characterisation] Lindor (2012) Hum Mutat 33: 8 [Additional report]
BIC nucleic acid #: 744+1G>T
Intron 6 Splice Site c.516+2T>A 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 744+2T>A
Intron 6 Splice Site c.516+2T>C 5 - Definitely pathogenic >0.99 Houdayer (2012) Hum Mutat 33, 1228
BIC nucleic acid #: 744+2T>C
Intron 6 Splice Site c.517-1G>C 5 - Definitely pathogenic >0.99 Holter (2015) J Clin Oncol 33, 3124
BIC nucleic acid #: 745-1G>C
Intron 6 Splice Site c.517-2A>G 5 - Definitely pathogenic >0.99 Jakubowska (2003) Eur J Hum Genet 11; 955 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 745-2A>G
Intron 6 Splice Site c.517-1G>A 5 - Definitely pathogenic >0.99 Tazzite (2012) Gynecol Oncol epub; epub Menéndez (2012) Breast Cancer Res Treat 132: 979 [Functional characterisation]
BIC nucleic acid #: 745-1G>A
Exon 7 Splice Site c.517G>T 5 - Definitely pathogenic >0.99 Gaildrat (2012) J Med Genet 49; 609
BIC nucleic acid #: 745G>T
Exon 7 Deletion c.518delG 5 - Definitely pathogenic >0.99 Di Giacomo (2013) HUM MUT 34, 1547
BIC nucleic acid #: 746delG
Exon 7 Deletion c.538_539delAT 5 - Definitely pathogenic >0.99 Di Giacomo (2013) HUM MUT 34, 1547
BIC nucleic acid #: 766_767delAT
Exon 7 Insertion c.538_539dupAT 5 - Definitely pathogenic >0.99 Evans (2001) Fam Cancer 1; 131
BIC nucleic acid #: 766_767dupAT
Exon 7 Indel c.572delAinsCT 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 800delAinsCT
Exon 7 Insertion c.574dupA 5 - Definitely pathogenic >0.99 Ottini (2009) Breast Cancer Res Treat 116; 577
BIC nucleic acid #: 802dupA
Exon 7 Deletion c.574_575delAT 5 - Definitely pathogenic >0.99 Evans (2003) J Med Genet 40; e107
BIC nucleic acid #: 802_803delAT
Exon 7 Nonsense c.581G>A p.W194* 5 - Definitely pathogenic >0.99 Couch (1996) Nat Genet 13; 123
BIC nucleic acid #: 809G>A
Exon 7 Nonsense c.582G>A p.W194* 5 - Definitely pathogenic >0.99 Drusedau (2013) EJHG 21, 1361
BIC nucleic acid #: 810G>A
Exon 7 Insertion c.595_599dup5 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 823_827dup5
Exon 7 Insertion c.610_613dup4 5 - Definitely pathogenic >0.99 Csokay (1999) Cancer Res 59; 995
BIC nucleic acid #: 838_841dup4
Exon 7 Deletion c.610delC 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 838delC
Exon 7 Splice Site c.631G>A 5 - Definitely pathogenic >0.99 Evans (2003) J Med Genet 40; e107 Colombo (2013) PLoS One 8: e57173 [Functional characterisation]
BIC nucleic acid #: 859G>A
Exon 7 Splice Site c.631G>C 5 - Definitely pathogenic >0.99 Di Giacomo (2013) Hum Mutat 34, 1547
BIC nucleic acid #: 859G>C
Intron 7 Splice Site c.631+1G>A 5 - Definitely pathogenic >0.99 Popp (2003) Cytogenet Genome Res 103; 54
BIC nucleic acid #: 859+1G>A
Intron 7 Splice Site c.631+2T>C 5 - Definitely pathogenic >0.99 Evans (2001) Fam Cancer 1; 131
BIC nucleic acid #: 859+2T>C
Intron 7 Splice Site c.631+2T>G 5 - Definitely pathogenic >0.99 Pyne (2000) J Hum Genet 45; 351 Biswas (2011) Blood 118: 2430 [Functional characterisation]
BIC nucleic acid #: 859+2T>G
Intron 7 Splice Site c.632-2A>G 5 - Definitely pathogenic >0.99 Ottini (2009) Breast Cancer Res Treat 116; 577
BIC nucleic acid #: 860-2A>G
Intron 7 Splice Site c.632-1G>A 5 - Definitely pathogenic >0.99 Al-Mulla (2009) J Clin Pathol 62; 350 Edwards (2010) Br J Cancer 103: 918 [Additional phenotype]
BIC nucleic acid #: 860-1G>A
Intron 7 Splice Site c.632-1G>T 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 860-1G>T
Intron 7 Splice Site c.632-3C>G 5 - Definitely pathogenic >0.99 Houdayer (2012) Hum Mutat 33, 1228
BIC nucleic acid #: 860-3C>G
Exon 8 Deletion c.635_636delGA 5 - Definitely pathogenic >0.99 Verhoog (1999) J Clin Oncol 17; 3396
BIC nucleic acid #: 863_864delGA
Exon 8 Deletion c.646delG 5 - Definitely pathogenic >0.99 Berzina (2013) BMC Med Genet 14;
BIC nucleic acid #: 874delG
Exon 8 Deletion c.658_659delGT 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 886_887delGT
Exon 8 Deletion c.662_663delTT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 890_891delTT
Exon 8 Deletion c.673_676del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 901_904del4
Exon 8 Deletion c.674delC 5 - Definitely pathogenic >0.99 El Saghir (2015) ONC 20, 357
BIC nucleic acid #: 902delC
Intron 8 Splice Site c.682-1G>C 5 - Definitely pathogenic >0.99 DE Silva (2011) Exp Ther Med 2; 1163
BIC nucleic acid #: 910-1G>C
Intron 8 Splice Site c.682-2A>C 5 - Definitely pathogenic >0.99 Santos (2014) J Mol Diagn 16, 324
BIC nucleic acid #: 910-2A>C
Intron 8 Splice Site c.682-2A>G 5 - Definitely pathogenic >0.99 de Garibay (2014) Hum Mutat 35, 53
BIC nucleic acid #: 910-2A>G
Exon 9 Deletion c.700delT 5 - Definitely pathogenic >0.99 Nedelcu (2002) Eur J Hum Genet 10; 150
BIC nucleic acid #: 928delT
Exon 9 Deletion c.702delC 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 930delC
Exon 9 Insertion c.715dupA 5 - Definitely pathogenic >0.99 Maillet (2006) Cancer Genet Cytogenet 169; 62
BIC nucleic acid #: 943dupA
Exon 9 Deletion c.729_732del4 5 - Definitely pathogenic >0.99 Weitzel (2005) Cancer Epidemiol Biomarkers Prev 14; 1666
BIC nucleic acid #: 957_960del4
Exon 9 Deletion c.736_755del20 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 964_983del20
Exon 9 Deletion c.755_758del4 5 - Definitely pathogenic >0.99 Tavtigian (1996) Nat Genet 12; 333
BIC nucleic acid #: 983_986del4
Exon 9 Deletion c.756_757delCA 5 - Definitely pathogenic >0.99 Haffty (2009) Ann Oncol 20; 1653
BIC nucleic acid #: 984_985delCA
Exon 9 Deletion c.767delC 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 995delC
Exon 9 Deletion c.771_775del5 5 - Definitely pathogenic >0.99 Tavtigian (1996) Nat Genet 12; 333 Jonsdottir (2009) Cell Oncol 31: 191 [Functional characterisation]
BIC nucleic acid #: 999_1003del5
Exon 9 Nonsense c.772C>T p.Q258* 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 1000C>T
Exon 9 Nonsense c.775A>T p.R259* 5 - Definitely pathogenic >0.99 Stegel (2011) BMC Med Genet 12; 9
BIC nucleic acid #: 1003A>T
Exon 9 Deletion c.775delA 5 - Definitely pathogenic >0.99 Palli (2004) Eur J Cancer 40; 2474
BIC nucleic acid #: 1003delA
Exon 9 Deletion c.778_779delGA 5 - Definitely pathogenic >0.99 Phelan (1996) Nat Genet 13; 120
BIC nucleic acid #: 1006_1007delGA
Intron 9 Deletion c.793+1delG 5 - Definitely pathogenic >0.99 Solano (2012) SpringerPlus 1;
BIC nucleic acid #: 1021+1delG
Exon 10 Nonsense c.818C>A p.S273* 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 1046C>A
Exon 10 Deletion c.826_830del5 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 1054_1058del5
Exon 10 Deletion c.846_847delCA 5 - Definitely pathogenic >0.99 Yurgelun (2015) GASTROENT 149, 604
BIC nucleic acid #: 1074_1075delCA
Exon 10 Nonsense c.880G>T p.E294* 5 - Definitely pathogenic >0.99 Yang (2011) JAMA 306; 1557
BIC nucleic acid #: 1108G>T
Exon 10 Insertion c.897_898insC 5 - Definitely pathogenic >0.99 Takahashi (1996) Cancer Res 56; 2738
BIC nucleic acid #: 1125_1126insC
Exon 10 Insertion c.898_899dupGT 5 - Definitely pathogenic >0.99 Akbari (2014) CLIN GENET 85, 64
BIC nucleic acid #: 1126_1127dupGT
Exon 10 Insertion c.901dupG 5 - Definitely pathogenic >0.99 Couch (1996) Nat Genet 13; 123
BIC nucleic acid #: 1129dupG
Exon 10 Deletion c.906delC 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 1134delC
Exon 10 Insertion c.918dupT 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 1146dupT
Exon 10 Insertion c.925dupT 5 - Definitely pathogenic >0.99 Sonnenblick (2011) Cancer Biol Ther 12; 165
BIC nucleic acid #: 1153dupT
Exon 10 Deletion c.930_931delAT 5 - Definitely pathogenic >0.99 Walsh (2011) Proc Natl Acad Sci U S A 108; 18032
BIC nucleic acid #: 1158_1159delAT
Exon 10 Nonsense c.952A>T p.K318* 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 1180A>T
Exon 10 Missense c.956A>C p.N319T 1 - Not pathogenic or of no clinical significance 0.00040 Farrugia DJ et al., Cancer Research 68:3523-3531, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1184A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.048
  • Pathology:
  • Sum Family: 6.61
  • Co-occurrence: 0.062
  • Functional assay:
  • Products of LRs:
Exon 10 Insertion c.956dupA 5 - Definitely pathogenic >0.99 Ozcelik (2003) J Med Genet 40; e91
BIC nucleic acid #: 1184dupA
Exon 10 Deletion c.956delA 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 1184delA
Exon 10 Nonsense c.961C>T p.Q321* 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 1189C>T
Exon 10 Deletion c.968_971del4 5 - Definitely pathogenic >0.99 Trujillano (2015) JMD 17, 162
BIC nucleic acid #: 1196_1199del4
Exon 10 Missense c.978C>A p.S326R 1 - Not pathogenic or of no clinical significance 0.00058 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1206C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 3.61
  • Sum Family: 7.92
  • Co-occurrence: 0.001
  • Functional assay:
  • Products of LRs:
Exon 10 Insertion c.993_994dupAA 5 - Definitely pathogenic >0.99 Zhang (2012) Breast Cancer Res Treat 132; 421
BIC nucleic acid #: 1221_1222dupAA
Exon 10 Insertion c.994dupA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1222dupA
Exon 10 Deletion c.994delA 5 - Definitely pathogenic >0.99 Turner (1999) J Clin Oncol 17; 3017
BIC nucleic acid #: 1222delA
Exon 10 Deletion c.1029delA 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 1257delA
Exon 10 Deletion c.1082delA 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 1310delA
Exon 10 Deletion c.1082_1085del4 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol 121; 353
BIC nucleic acid #: 1310_1313del4
Exon 10 Insertion c.1085_1086insCA 5 - Definitely pathogenic >0.99 Merdad (2015) BMCGENO 16S1,
BIC nucleic acid #: 1313_1314insCA
Exon 10 Insertion c.1097dupT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 1325dupT
Exon 10 Nonsense c.1103C>A p.S368* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 1331C>A
Exon 10 Missense c.1114C>A p.N372H 1 - Not pathogenic or of no clinical significance 0.00000 Farrugia DJ et al., Cancer Research 68:3523-3531, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1342 C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.001
  • Pathology:
  • Sum Family:
  • Co-occurrence: 0.0001
  • Functional assay:
  • Products of LRs:
Exon 10 Nonsense c.1117C>T p.Q373* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1345C>T
Exon 10 Missense c.1123C>T p.P375S 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 #: 1351C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.05495
  • Co-occurrence: 0.05754
  • Functional assay:
  • Products of LRs:
Exon 10 Deletion c.1128delT 5 - Definitely pathogenic >0.99 de Juan (2009) Breast Cancer Res Treat 115; 405
BIC nucleic acid #: 1356delT
Exon 10 Deletion c.1147delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 1375delA
Exon 10 Missense c.1151C>T p.S384F 1 - Not pathogenic or of no clinical significance 0.00042 Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1379C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.0987
  • Pathology:
  • Sum Family:
  • Co-occurrence: 0.2104
  • Functional assay:
  • Products of LRs:
Exon 10 Nonsense c.1153A>T p.K385* 5 - Definitely pathogenic >0.99 de la Hoya (2002) Int J Cancer 97; 466
BIC nucleic acid #: 1381A>T
Exon 10 Deletion c.1176_1180del5 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 1404_1408del5
Exon 10 Nonsense c.1180G>T p.E394* 5 - Definitely pathogenic >0.99 Balabas (2010) Fam Cancer 9; 267
BIC nucleic acid #: 1408G>T
Exon 10 Nonsense c.1184G>A p.W395* 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 1412G>A
Exon 10 Insertion c.1189_1190ins4 5 - Definitely pathogenic >0.99 Smith (2012) Proc Biol Sci 279; 1389
BIC nucleic acid #: 1417_1418ins4
Exon 10 Insertion c.1189_1190ins4 5 - Definitely pathogenic >0.99 Lalloo (2006) Eur J Cancer 42; 1143
BIC nucleic acid #: 1417_1418ins4
Exon 10 Deletion c.1205delG 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 1433delG
Exon 10 Deletion c.1225delG 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 1453delG
Exon 10 Deletion c.1231delA 5 - Definitely pathogenic >0.99 Kote-Jarai (2011) Br J Cancer 105; 1230
BIC nucleic acid #: 1459delA
Exon 10 Indel c.1231_1241del11ins4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1459_1469del11ins4
Exon 10 Indel c.1232_1240del9insCA 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 1460_1468del9insCA
Exon 10 Insertion c.1233dupA 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 1461dupA
Exon 10 Deletion c.1238delT 5 - Definitely pathogenic >0.99 Capalbo (2006) Ann Oncol 17S7; vii34
BIC nucleic acid #: 1466delT
Exon 10 Nonsense c.1241T>A p.L414* 5 - Definitely pathogenic >0.99 Serova-Sinilnikova (1997) Am J Hum Genet 60; 1236
BIC nucleic acid #: 1469T>A
Exon 10 Deletion c.1257delT 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 1485delT
Exon 10 Nonsense c.1261C>T p.Q421* 5 - Definitely pathogenic >0.99 Kwong (2009) Breast Cancer Res Treat 117; 683
BIC nucleic acid #: 1489C>T
Exon 10 Deletion c.1265delA 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 1493delA
Exon 10 Deletion c.1278delA 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 1506delA
Exon 10 Deletion c.1296_1297delGA 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 1524_1525delGA
Exon 10 Deletion c.1300_1303del4 5 - Definitely pathogenic >0.99 Tereschenko (2002) Hum Mutat 19; 184
BIC nucleic acid #: 1528_1531del4
Exon 10 Deletion c.1310_1311delAA 5 - Definitely pathogenic >0.99 Machado (2007) J Clin Oncol 25; 2027
BIC nucleic acid #: 1538_1539delAA
Exon 10 Deletion c.1310_1313del4 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1 Jonsdottir (2009) Cell Oncol 31: 191 [Functional characterisation]
BIC nucleic acid #: 1538_1541del4
Exon 10 Insertion c.1318_1319dupCT 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 1546_1547dupCT
Exon 10 Insertion c.1321dupA 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 1549dupA
Exon 10 Deletion c.1321_1324del4 5 - Definitely pathogenic >0.99 Faivre (2005) Am J Med Genet A 137; 55
BIC nucleic acid #: 1549_1552del4
Exon 10 Nonsense c.1325C>A p.S442* 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 1553C>A
Exon 10 Nonsense c.1327G>T p.E443* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1555G>T
Exon 10 Deletion c.1335_1338del4 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 1563_1566del4
Exon 10 Deletion c.1362delA 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 1590delA
Exon 10 Deletion c.1368_1369delGA 5 - Definitely pathogenic >0.99 Esteban Cardeñosa (2010) Breast Cancer Res Treat 121; 257
BIC nucleic acid #: 1596_1597delGA
Exon 10 Insertion c.1368_1369dupGA 5 - Definitely pathogenic >0.99 Machado (2007) J Clin Oncol 25; 2027
BIC nucleic acid #: 1596_1597dupGA
Exon 10 Missense c.1385A>G p.E462G 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 #: 1613A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.01514
  • Pathology:
  • Sum Family: 0.04074
  • Co-occurrence: 0.22909
  • Functional assay:
  • Products of LRs:
Exon 10 Deletion c.1389delA 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 1617delA
Exon 10 Deletion c.1389_1390delAG 5 - Definitely pathogenic >0.99 Goelen (1999) J Med Genet 36; 304
BIC nucleic acid #: 1617_1618delAG
Exon 10 Insertion c.1392_1393insT 5 - Definitely pathogenic >0.99 Manguoglu (2010) Cancer Genet Cytogenet 203; 230
BIC nucleic acid #: 1620_1621insT
Exon 10 Nonsense c.1399A>T p.K467* 5 - Definitely pathogenic >0.99 Kang (2002) Hum Mutat 20; 235
BIC nucleic acid #: 1627A>T
Exon 10 Deletion c.1405_1406delGA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 1633_1634delGA
Exon 10 Insertion c.1408insG 5 - Definitely pathogenic >0.99 Konecny (2011) Breast Cancer Res Treat 126; 119
BIC nucleic acid #: 1636dupG
Exon 10 Nonsense c.1411G>T p.E471* 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 1639G>T
Exon 10 Nonsense c.1423G>T p.E475* 5 - Definitely pathogenic >0.99 Machado (2007) J Clin Oncol 25; 2027
BIC nucleic acid #: 1651G>T
Exon 10 Deletion c.1444delC 5 - Definitely pathogenic >0.99 Augustyn (2011) Breast Cancer Res Treat epub; epub
BIC nucleic acid #: 1672delC
Exon 10 Indel c.1449_1450delATins4 5 - Definitely pathogenic >0.99 de Juan (2009) Breast Cancer Res Treat 115; 405
BIC nucleic acid #: 1677_1678delAGins4
Exon 10 Deletion c.1496_1497delAG 5 - Definitely pathogenic >0.99 Coppa (2014) BCRT 148, 629
BIC nucleic acid #: 1724_1725delAG
Exon 10 Deletion c.1499delG 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 1727delG
Exon 10 Deletion c.1511_1512delCT 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 1739_1740delCT
Exon 10 Deletion c.1514delT 5 - Definitely pathogenic >0.99 Jang (2012) J Hum Genet 57; 212
BIC nucleic acid #: 1742delT
Exon 10 Nonsense c.1528G>T p.E510* 5 - Definitely pathogenic >0.99 Stegel (2011) BMC Med Genet 12; 9
BIC nucleic acid #: 1756G>T
Exon 10 Missense c.1538A>G p.K513R 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 #: 1766A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.18197
  • Co-occurrence: 0.05129
  • Functional assay:
  • Products of LRs:
Exon 10 Deletion c.1538_1541del4 5 - Definitely pathogenic >0.99 Ameziane (2008) Hum Mutat 29; 159
BIC nucleic acid #: 1766_1769del4
Exon 10 Insertion c.1540dupG 5 - Definitely pathogenic >0.99 Santarosa (1999) Int J Cancer 83; 5
BIC nucleic acid #: 1768dupG
Exon 10 Deletion c.1547delT 5 - Definitely pathogenic >0.99 Choi (2004) J Clin Oncol 22; 1638
BIC nucleic acid #: p.1775delT
Exon 10 Missense c.1550A>G p.N517S 2 - Likely not pathogenic or of little clinical significance 0.0254 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1778A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.442
  • Sum Family: 2.89
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
Exon 10 Deletion c.1572delG 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 1800delG
Exon 10 Insertion c.1593dupA 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 1821dupA
Exon 10 Nonsense c.1594G>T p.E532* 5 - Definitely pathogenic >0.99 Eerola (2005) Breast Cancer Res 7; R93
BIC nucleic acid #: 1822G>T
Exon 10 Deletion c.1597delA 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 1825delA
Exon 10 Insertion c.1608dupT 5 - Definitely pathogenic >0.99 Esteban Cardeñosa (2008) Breast Cancer Res Treat 112; 69
BIC nucleic acid #: 1836dupT
Exon 10 Deletion c.1612_1613delAG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1840_1841delAG
Exon 10 Deletion c.1636delT 5 - Definitely pathogenic >0.99 Noguchi (2000) Hum Mutat 17; 155
BIC nucleic acid #: 1864delT
Exon 10 Deletion c.1646_1649del4 5 - Definitely pathogenic >0.99 de Juan (2009) Breast Cancer Res Treat 115; 405
BIC nucleic acid #: 1874_1877del4
Exon 10 Deletion c.1654delT 5 - Definitely pathogenic >0.99 Kanaan (2003) Hum Genet 113; 452
BIC nucleic acid #: 1882delT
Exon 10 Missense c.1662T>G p.C554W 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 #: 1890T>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.0002
  • Pathology:
  • Sum Family: 0.04898
  • Co-occurrence: 1.99526
  • Functional assay:
  • Products of LRs:
Exon 10 Nonsense c.1670T>G p.L557* 5 - Definitely pathogenic >0.99 Sermijn (2004) J Med Genet 41; e23
BIC nucleic acid #: 1898T>G
Exon 10 Deletion c.1670_1683del14 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 1898_1911del14
Exon 10 Deletion c.1672delA 5 - Definitely pathogenic >0.99 Ganguly (1998) Hum Genet 102; 549
BIC nucleic acid #: 1900delA
Exon 10 Nonsense c.1689G>A p.W563* 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 1917G>A
Exon 10 Deletion c.1705delC 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 1933delC
Exon 10 Deletion c.1711_1715del5 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 1939_1943del5
Exon 10 Nonsense c.1736T>G p.L579* 5 - Definitely pathogenic >0.99 Holter (2015) JCO 33, 3124
BIC nucleic acid #: 1964T>G
Exon 10 Missense c.1744A>C p.T582P 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 #: 1972A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.47863
  • Co-occurrence: 0.00229
  • Functional assay:
  • Products of LRs:
Exon 10 Nonsense c.1748T>A p.L583* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 1976T>A
Exon 10 Deletion c.1748delT 5 - Definitely pathogenic >0.99 Montagna (2002) Int J Cancer 98; 732
BIC nucleic acid #: 1976delT
Exon 10 Deletion c.1754delA 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 1982delA
Exon 10 Deletion c.1755_1759del5 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 1983_1987del5
Exon 10 Missense c.1762A>G p.N588D 2 - Likely not pathogenic or of little clinical significance 0.0300 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 1990A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.732
  • Sum Family: 2.07
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
Exon 10 Deletion c.1763_1766del4 5 - Definitely pathogenic >0.99 Kanaan (2003) Hum Genet 113; 452
BIC nucleic acid #: 1991_1994del4
Exon 10 Deletion c.1765_1766delAA 5 - Definitely pathogenic >0.99 Kanaan (2003) Hum Genet 113; 452
BIC nucleic acid #: 1993_1994delAA
Exon 10 Deletion c.1773_1776del4 5 - Definitely pathogenic >0.99 Kanaan (2003) Hum Genet 113; 452
BIC nucleic acid #: 2001_2004del4
Exon 10 Deletion c.1787_1799del13 5 - Definitely pathogenic >0.99 Kote-Jarai (2011) Br J Cancer 105; 1230
BIC nucleic acid #: 2015_2027del13
Exon 10 Deletion c.1792delA 5 - Definitely pathogenic >0.99 Hernan (2015) CLTO epub, epub
BIC nucleic acid #: 2020delA
Exon 10 Deletion c.1796_1800del5 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 2024_2028del5
Exon 10 Deletion c.1797_1801del5 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2025_2029del5
Exon 10 Nonsense c.1800T>A p.Y600* 5 - Definitely pathogenic >0.99 Pal (2013) BREAST J 19, 189
BIC nucleic acid #: 2028T>A
Exon 10 Insertion c.1803dupA 5 - Definitely pathogenic >0.99 Villarreal-Garza (2015) CANCER 121, 372
BIC nucleic acid #: 2031dupA
Exon 10 Missense c.1804G>A p.G602R 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 #: 2032G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.00026
  • Pathology:
  • Sum Family: 0.129
  • Co-occurrence: 1.479
  • Functional assay:
  • Products of LRs:
Exon 10 Deletion c.1805delG 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 2033delG
Exon 10 Deletion c.1813delA 5 - Definitely pathogenic >0.99 Bergthorsson (2001) J Med Genet 38; 361
BIC nucleic acid #: 2041delA
Exon 10 Insertion c.1813_1814insC 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 2041_2042insC
Exon 10 Insertion c.1813dupA 5 - Definitely pathogenic >0.99 Schubert (1997) Am J Hum Genet 60; 1031 Becker (2012) Breast Cancer Res Treat 135: 167 [Functional characterisation]
BIC nucleic acid #: 2041dupA
Exon 10 Insertion c.1815dupA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 2043dupA
Exon 10 Missense c.1820A>C p.K607T 2 - Likely not pathogenic or of little clinical significance 0.00528 Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2048A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.1866
  • Pathology: 1.2
  • Sum Family:
  • Co-occurrence: 1.1615
  • Functional assay:
  • Products of LRs:
Exon 10 Nonsense c.1832C>A p.S611* 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 2060C>A
Exon 10 Nonsense c.1832C>G p.S611* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 2060C>G
Exon 10 Insertion c.1842dupT 5 - Definitely pathogenic >0.99 Esteban Cardeñosa (2010) Breast Cancer Res Treat 121; 257
BIC nucleic acid #: 2070dupT
Exon 10 Deletion c.1845_1846delCT 5 - Definitely pathogenic >0.99 Degrolard-Courcet (2014) EJHG 22, 979
BIC nucleic acid #: 2073_2074delCT
Exon 10 Insertion c.1851dupA 5 - Definitely pathogenic >0.99 Kauff (2002) J Med Genet 39; 611
BIC nucleic acid #: 2079dupA
Exon 10 Insertion c.1855dupC 5 - Definitely pathogenic >0.99 Ganguly (1998) Hum Genet 102; 549
BIC nucleic acid #: 2083dupC
Exon 10 Nonsense c.1855C>T p.Q619* 5 - Definitely pathogenic >0.99 Rashid (2006) Int J Cancer 119; 2832
BIC nucleic acid #: 2083C>T
Exon 10 Deletion c.1860delT 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 2088delT
Exon 10 Deletion c.1874_1875delTT 5 - Definitely pathogenic >0.99 Cunningham (2014) SCI REP 4, 4026
BIC nucleic acid #: 2102_2103delTT
Exon 10 Deletion c.1881delA 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 2109delA
Exon 10 Insertion c.1888dupA 5 - Definitely pathogenic >0.99 Walsh (2011) Proc Natl Acad Sci U S A 108; 18032
BIC nucleic acid #: 2116dupA
Exon 10 Missense c.1889C>T p.T630I 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 #: 2117C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00002
  • Co-occurrence: 0.26303
  • Functional assay:
  • Products of LRs:
Exon 10 Deletion c.1889delC 5 - Definitely pathogenic >0.99 Edwards (2010) Br J Cancer 103; 918
BIC nucleic acid #: 2117delC
Exon 10 Deletion c.1893delT 5 - Definitely pathogenic >0.99 Nelson-Moseke (2013) Fam Cancer 12; 83
BIC nucleic acid #: 2121delT
Exon 10 Deletion c.1893delT 5 - Definitely pathogenic >0.99 Nelson-Moseke (2013) FAM CAN 12, 83
BIC nucleic acid #: 2121delT
Exon 10 Insertion c.1899_1900insTT 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 2127_2128insTT
Exon 10 Deletion c.1901delC 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 2129delC
Exon 10 Deletion c.1906delT 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 2134delT
Intron 10 Splice Site c.1909+1G>A 5 - Definitely pathogenic >0.99 Frey (2015) Gynecol Oncol 139, 211
BIC nucleic acid #: 2137+1G>A
Exon 11 Deletion c.1929delG 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 2157delG
Exon 11 Deletion c.1933delA 5 - Definitely pathogenic >0.99 Ganguly (1998) Hum Genet 102; 549
BIC nucleic acid #: 2161delA
Exon 11 Missense c.1964C>G p.P655R 1 - Not pathogenic or of no clinical significance 0.00007 Goldgar et al., AJHG 75: 535-544, 2004. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2192C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.48
  • Pathology:
  • Sum Family:
  • Co-occurrence: 0.007
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.2092delC 5 - Definitely pathogenic >0.99 Bonadona (2005) Genes Chromosomes Cancer 43; 404
BIC nucleic acid #: 2320delC
Exon 11 Nonsense c.2095C>T p.Q699* 5 - Definitely pathogenic >0.99 Blay (2013) BMC Cancer 13;
BIC nucleic acid #: 2323C>T
Exon 11 Deletion c.2103_2106del4 5 - Definitely pathogenic >0.99 Nedelcu (2002) Eur J Hum Genet 10; 150
BIC nucleic acid #: 2331_2334del4
Exon 11 Deletion c.2150delG 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 2378delG
Exon 11 Insertion c.2175dupA 5 - Definitely pathogenic >0.99 DE Silva (2011) Exp Ther Med 2; 1163
BIC nucleic acid #: 2403dupA
Exon 11 Nonsense c.2224C>T p.Q742* 5 - Definitely pathogenic >0.99 Weitzel (2005) Cancer Epidemiol Biomarkers Prev 14; 1666
BIC nucleic acid #: 2452C>T
Exon 11 Insertion c.2230dupT 5 - Definitely pathogenic >0.99 Goggins (1996) Cancer Res 56; 5360
BIC nucleic acid #: 2458dupT
Exon 11 Nonsense c.2231C>G p.S744* 5 - Definitely pathogenic >0.99 Heidemann (2012) Breast Cancer Res Treat epub; epub
BIC nucleic acid #: 2459C>G
Exon 11 Insertion c.2253dupT 5 - Definitely pathogenic >0.99 Ganguly (1998) Hum Genet 102; 549
BIC nucleic acid #: 2481dupT
Exon 11 Deletion c.2254_2257del4 5 - Definitely pathogenic >0.99 El-Harith (2002) Saudi Med J 23; 700
BIC nucleic acid #: 2482_2485del4
Exon 11 Deletion c.2259delT 5 - Definitely pathogenic >0.99 Seo (2004) Hum Mutat 24; 350
BIC nucleic acid #: 2487delT
Exon 11 Nonsense c.2266C>T p.Q756* 5 - Definitely pathogenic >0.99 Carraro (2013) PLoS One 8; e57581
BIC nucleic acid #: 2494C>T
Exon 11 Deletion c.2275delC 5 - Definitely pathogenic >0.99 Wong (2015) PLOS ONE 10, e0134408
BIC nucleic acid #: 2503delC
Exon 11 Deletion c.2278_2279delTT 5 - Definitely pathogenic >0.99 Bayraktar (2012) Cancer 118; 1515
BIC nucleic acid #: 2506_2507delTT
Exon 11 Deletion c.2287delC 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 2515delC
Exon 11 Nonsense c.2312T>G p.L771* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 2540T>G
Exon 11 Insertion c.2330dupA 5 - Definitely pathogenic >0.99 Agoff (2002) Am J Surg Pathol 26; 171
BIC nucleic acid #: 2558dupA
Exon 11 Nonsense c.2339C>G p.S780* 5 - Definitely pathogenic >0.99 Konstantopoulou (2014) CLIN GENET 85, 36
BIC nucleic acid #: 2567C>G
Exon 11 Missense c.2350A>G p.M784V 3 - Uncertain 0.0763 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2578A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 4.05
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
Exon 11 Nonsense c.2372C>A p.S791* 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 2600C>A
Exon 11 Nonsense c.2376C>A p.Y792* 5 - Definitely pathogenic >0.99 Salazar (2006) Cancer Lett 233; 172
BIC nucleic acid #: 2604C>A
Exon 11 Deletion c.2402_2420del19 5 - Definitely pathogenic >0.99 Feliubadalo (2013) EJHG 21, 864
BIC nucleic acid #: 2630_2648del19
Exon 11 Deletion c.2402_2412del11 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 2630_2640del11
Exon 11 Deletion c.2402_2420del19 5 - Definitely pathogenic >0.99 Feliubadaló (2013) Eur J Hum Genet 21; 864
BIC nucleic acid #: 2630_2648del19
Exon 11 Nonsense c.2409T>G p.Y803* 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol epub; epub
BIC nucleic acid #: 2637T>G
Exon 11 Missense c.2416G>C p.D806H 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 #: 2644G>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.21878
  • Pathology:
  • Sum Family: 0.26915
  • Co-occurrence: 0.06607
  • Functional assay:
  • Products of LRs:
Exon 11 Nonsense c.2426T>G p.L809* 5 - Definitely pathogenic >0.99 Claus (2005) JAMA 293; 964
BIC nucleic acid #: 2654T>G
Exon 11 Insertion c.2435dupA 5 - Definitely pathogenic >0.99 Ruiz-Flores (2002) Hum Mutat 20; 474
BIC nucleic acid #: 2663dupA
Exon 11 Deletion c.2435delA 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 2663delA
Exon 11 Insertion c.2439dupT 5 - Definitely pathogenic >0.99 DE Silva (2011) Exp Ther Med 2; 1163
BIC nucleic acid #: 2667dupT
Exon 11 Deletion c.2442delC 5 - Definitely pathogenic >0.99 Li (1999) Hum Genet 104; 201
BIC nucleic acid #: 2670delC
Exon 11 Deletion c.2450delA 5 - Definitely pathogenic >0.99 Bergthorsson (2001) J Med Genet 38; 361
BIC nucleic acid #: 2678delA
Exon 11 Nonsense c.2455C>T p.Q819* 5 - Definitely pathogenic >0.99 Infante (2006) J Hum Genet 51; 611
BIC nucleic acid #: 2683C>T
Exon 11 Deletion c.2457delA 5 - Definitely pathogenic >0.99 George (2013) Clin Cancer Res 19; 3474
BIC nucleic acid #: 2685delA
Exon 11 Deletion c.2471_2476del6 5 - Definitely pathogenic >0.99 Purnomasari (2005) J Clin Pathol 58; 493
BIC nucleic acid #: 2699_2704del6
Exon 11 Nonsense c.2471T>G p.L824* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2699T>G
Exon 11 Insertion c.2505dupA 5 - Definitely pathogenic >0.99 Lara (2012) BR 45, 117
BIC nucleic acid #: 2733dupA
Exon 11 Nonsense c.2537C>G p.S846* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2765C>G
Exon 11 Insertion c.2548dupC 5 - Definitely pathogenic >0.99 Hirotsu (2015) MGGM 3, 121
BIC nucleic acid #: 2776dupC
Exon 11 Deletion c.2564_2565delCA 5 - Definitely pathogenic >0.99 Rodriguez (2008) Fam Cancer 7; 275
BIC nucleic acid #: 2792_2793delCA
Exon 11 Deletion c.2586_2592del7 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 2814_2820del7
Exon 11 Insertion c.2588dupA 5 - Definitely pathogenic >0.99 Gao (2000) Hum Genet 107; 186
BIC nucleic acid #: 2816dupA
Exon 11 Deletion c.2589delT 5 - Definitely pathogenic >0.99 Musolino (2007) Breast 16; 280
BIC nucleic acid #: 2817delT
Exon 11 Deletion c.2596_2599del4 5 - Definitely pathogenic >0.99 Ang (2007) Cancer Epidemiol Biomarkers Prev 16; 2276
BIC nucleic acid #: 2824_2827del4
Exon 11 Missense c.2606C>T p.S869L 3 - Uncertain 0.1037 Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 2834C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 9.43
  • Pathology: 0.52
  • Sum Family:
  • Co-occurrence: 1.156
  • Functional assay:
  • Products of LRs:
Exon 11 Nonsense c.2612C>A p.S871* 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 2840C>A
Exon 11 Indel c.2612delCinsTTT 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 2840delCinsTTT
Exon 11 Deletion c.2627delA 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 2855delA
Exon 11 Deletion c.2636_2637delCT 5 - Definitely pathogenic >0.99 Toh (2008) PLoS One 3; e2024
BIC nucleic acid #: 2864_2867delCT
Exon 11 Deletion c.2637_2638delTG 5 - Definitely pathogenic >0.99 Vaca-Paniagua (2012) PLoS One 7; e37432
BIC nucleic acid #: 2865_2866delTG
Exon 11 Deletion c.2653_2656del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2881_2884del4
Exon 11 Missense c.2680G>A p.V894I 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 #: 2908G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.03311
  • Pathology:
  • Sum Family: 0.12589
  • Co-occurrence: 0.09772
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.2701delC 5 - Definitely pathogenic >0.99 Miramar (2008) Breast Cancer Res Treat 112; 353
BIC nucleic acid #: 2929delC
Exon 11 Deletion c.2731delG 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 2959delG
Exon 11 Deletion c.2743_2747del5 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 2971_2975del5
Exon 11 Nonsense c.2748T>A p.C916* 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 2976T>A
Exon 11 Deletion c.2760delC 5 - Definitely pathogenic >0.99 Scott (2003) Hum Genet 112; 542
BIC nucleic acid #: 2988delC
Exon 11 Insertion c.2765dupT 5 - Definitely pathogenic >0.99 Kiechle (2000) Hum Mutat 16; 529
BIC nucleic acid #: 2993dupT
Exon 11 Insertion c.2773dupT 5 - Definitely pathogenic >0.99 Beristain (2007) Breast Cancer Res Treat 106; 255
BIC nucleic acid #: 3001dupT
Exon 11 Deletion c.2774_2775delCT 5 - Definitely pathogenic >0.99 Torres (2009) Genet Test Mol Biomarkers 13; 631
BIC nucleic acid #: 3002_3003delCT
Exon 11 Deletion c.2786delT 5 - Definitely pathogenic >0.99 S/NI Consortium (2003) Br J Cancer 88; 1256
BIC nucleic acid #: 3014delT
Exon 11 Insertion c.2786dupT 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3014dupT
Exon 11 Missense c.2786T>C p.L929S 1 - Not pathogenic or of no clinical significance 0.00007 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3014T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.73
  • Sum Family: 4.97
  • Co-occurrence: 0.001
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.2798_2799delCA 5 - Definitely pathogenic >0.99 Choi (2004) J Clin Oncol 22; 1638
BIC nucleic acid #: 3026_3027delCA
Exon 11 Deletion c.2805_2808del4 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 3033_3036del4
Exon 11 Deletion c.2808_2811del4 5 - Definitely pathogenic >0.99 Wooster (1995) Nature 378; 789
BIC nucleic acid #: 3036_3039del4
Exon 11 Deletion c.2808delA 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 3036delA
Exon 11 Deletion c.2810_2811delAA 5 - Definitely pathogenic >0.99 Couch (1996) Nat Genet 13; 123
BIC nucleic acid #: 3038_3039delAA
Exon 11 Deletion c.2812_2815del4 5 - Definitely pathogenic >0.99 Purnomosari (2007) Breast Cancer Res Treat 106; 297
BIC nucleic acid #: 3040_3043del4
Exon 11 Deletion c.2828_2831del4 5 - Definitely pathogenic >0.99 van der Merwe (2012) Clin Genet 81; 179
BIC nucleic acid #: 3056_3059del4
Exon 11 Nonsense c.2830A>T p.K944* 5 - Definitely pathogenic >0.99 Hakansson (1997) Am J Hum Genet 60; 1068
BIC nucleic acid #: 3058A>T
Exon 11 Deletion c.2835delA 5 - Definitely pathogenic >0.99 Armakolas (2001) Hum Mutat 19; 81
BIC nucleic acid #: 3063delA
Exon 11 Deletion c.2836delG 5 - Definitely pathogenic >0.99 Kote-Jarai (2011) Br J Cancer 105; 1230
BIC nucleic acid #: 3064delG
Exon 11 Deletion c.2836_2837delGA 5 - Definitely pathogenic >0.99 Kote-Jarai (2011) Br J Cancer 105; 1230
BIC nucleic acid #: 3064_3065delGA
Exon 11 Deletion c.2845delT 5 - Definitely pathogenic >0.99 Li (1999) Hum Genet 104; 201
BIC nucleic acid #: 3073delT
Exon 11 Deletion c.2870delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3098delA
Exon 11 Deletion c.2899_2900delCT 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 3127_3128delCT
Exon 11 Nonsense c.2912T>G p.L971* 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3140T>G
Exon 11 Deletion c.2944delA 5 - Definitely pathogenic >0.99 Miele (2015) BIOMARK R 3, 13
BIC nucleic acid #: 3172delA
Exon 11 Nonsense c.2950G>T p.E984* 5 - Definitely pathogenic >0.99 Papi (2009) Breast Cancer Res Treat 117; 497
BIC nucleic acid #: 3178G>T
Exon 11 Insertion c.2957_2958insG 5 - Definitely pathogenic >0.99 Holter (2015) JCO 33, 3124
BIC nucleic acid #: 3185_3186insG
Exon 11 Insertion c.2957dupA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3185dupA
Exon 11 Missense c.2960A>T p.N987I 1 - Not pathogenic or of no clinical significance 0.00007 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3188A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.73
  • Sum Family: 4.97
  • Co-occurrence: 0.001
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.2971_2983del13 5 - Definitely pathogenic >0.99 Yurgelun (2015) GASTROENT 149, 604
BIC nucleic acid #: 3199_3211del13
Exon 11 Nonsense c.2979G>A p.W993* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3207G>A
Exon 11 Nonsense c.2990T>A p.L997* 5 - Definitely pathogenic >0.99 Rashid (2006) Int J Cancer 119; 2832
BIC nucleic acid #: 3218T>A
Exon 11 Insertion c.3014_3015dupTT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3242_3243dupTT
Exon 11 Deletion c.3018delA 5 - Definitely pathogenic >0.99 Noh (2011) Breast Cancer Res Treat 131; 217
BIC nucleic acid #: 3246delA
Exon 11 Nonsense c.3043A>T p.K1015* 5 - Definitely pathogenic >0.99 Jakubowska (2003) Eur J Hum Genet 11; 955
BIC nucleic acid #: 3271A>T
Exon 11 Deletion c.3051delC 5 - Definitely pathogenic >0.99 Hamann (2002) J Med Genet 39; e12
BIC nucleic acid #: 3279delC
Exon 11 Missense c.3055C>G p.L1019V 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 #: 3283C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.00066
  • Pathology:
  • Sum Family: 0.00015
  • Co-occurrence: 3.46737
  • Functional assay:
  • Products of LRs:
Exon 11 Insertion c.3068dupA 5 - Definitely pathogenic >0.99 Liede (1998) Am J Hum Genet 62; 1543
BIC nucleic acid #: 3296dupA
Exon 11 Deletion c.3070_3071delAT 5 - Definitely pathogenic >0.99 Cunningham (2014) SCI REP 4, 4026
BIC nucleic acid #: 3298_3299delAT
Exon 11 Indel c.3075_3076delGAinsTT p.K1025N;K1026* 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 3303_3304delGAinsTT
Exon 11 Nonsense c.3076A>T p.K1026* 5 - Definitely pathogenic >0.99 Foretova (2004) Hum Mutat 23; 397
BIC nucleic acid #: 3304A>T
Exon 11 Indel c.3096_3110del15insT 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3324_3338del15insT
Exon 11 Nonsense c.3103G>T p.E1035* 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 3331G>T
Exon 11 Nonsense c.3109C>T p.Q1037* 5 - Definitely pathogenic >0.99 Khoo (2000) Hum Mutat 16; 88
BIC nucleic acid #: 3337C>T
Exon 11 Nonsense c.3136G>T p.E1046* 5 - Definitely pathogenic >0.99 George (2013) Clin Cancer Res 19; 3474
BIC nucleic acid #: 3364G>T
Exon 11 Deletion c.3146delA 5 - Definitely pathogenic >0.99 Diez (2000) Ann Oncol 11; 81
BIC nucleic acid #: 3374delA
Exon 11 Nonsense c.3158T>G p.L1053* 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3386T>G
Exon 11 Deletion c.3160_3163del4 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 3388_3391del4
Exon 11 Nonsense c.3166C>T p.Q1056* 5 - Definitely pathogenic >0.99 Rodriguez (2008) Fam Cancer 7; 275
BIC nucleic acid #: 3394C>T
Exon 11 Deletion c.3167_3170del4 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3395_3398del4
Exon 11 Deletion c.3170_3174del5 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3398_3402del5
Exon 11 Nonsense c.3172A>T p.K1058* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 3400A>T
Exon 11 Deletion c.3189_3192del4 5 - Definitely pathogenic >0.99 Balci (1999) Eur J Cancer 35; 707
BIC nucleic acid #: 3417_3420del4
Exon 11 Deletion c.3195delT 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 3423delT
Exon 11 Deletion c.3195_3198del4 5 - Definitely pathogenic >0.99 Kim (2006) Biochem Biophys Res Commun 349; 604
BIC nucleic acid #: 3423_3426del4
Exon 11 Deletion c.3199delA 5 - Definitely pathogenic >0.99 Gorski (2004) Int J Cancer 110; 683
BIC nucleic acid #: 3427delA
Exon 11 Deletion c.3202delG 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 3430delG
Exon 11 Deletion c.3226_3230del5 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3454_3458del5
Exon 11 Deletion c.3235delT 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 3463delT
Exon 11 Insertion c.3263dupC 5 - Definitely pathogenic >0.99 Blay (2013) BMC Cancer 13; 243
BIC nucleic acid #: 3491dupC
Exon 11 Insertion c.3264dupT 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 3492dupT
Exon 11 Insertion c.3264_3265insTT 5 - Definitely pathogenic >0.99 de la Hoya (2003) JAMA 290; 929
BIC nucleic acid #: 3492_3493insTT
Exon 11 Nonsense c.3265C>T p.Q1089* 5 - Definitely pathogenic >0.99 Stegel (2011) BMC Med Genet 12; 9
BIC nucleic acid #: 3493C>T
Exon 11 Deletion c.3267_3268delGA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3495_3496delGA
Exon 11 Indel c.3268_3269delATinsG 5 - Definitely pathogenic >0.99 Choi (2015) IJGC 25, 1386
BIC nucleic acid #: 3496_3497delATinsG
Exon 11 Deletion c.3269delT 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3497delT
Exon 11 Deletion c.3277delT 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 3505delT
Exon 11 Nonsense c.3283C>T p.Q1095* 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3511C>T
Exon 11 Deletion c.3295delT 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol 121; 353
BIC nucleic acid #: 3523delT
Exon 11 Nonsense c.3296C>G p.S1099* 5 - Definitely pathogenic >0.99 Tereschenko (2002) Hum Mutat 19; 184
BIC nucleic acid #: 3524C>G
Exon 11 Missense c.3304A>T p.N1102Y 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 #: 3532A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00295
  • Co-occurrence: 1.38038
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.3352_3356del5 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3580_3584del5
Exon 11 Deletion c.3354delA 5 - Definitely pathogenic >0.99 Santarosa (1999) Int J Cancer 83; 5
BIC nucleic acid #: 3582delA
Exon 11 Nonsense c.3362C>G p.S1121* 5 - Definitely pathogenic >0.99 De Leon Matsuda (2002) Int J Cancer 98; 596
BIC nucleic acid #: 3590C>G
Exon 11 Deletion c.3366_3367delAA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3594_3595delAA
Exon 11 Deletion c.3381delT 5 - Definitely pathogenic >0.99 Tazzite (2012) Gynecol Oncol 125; 687
BIC nucleic acid #: 3609delT
Exon 11 Nonsense c.3405C>A p.Y1135* 5 - Definitely pathogenic >0.99 Kote-Jarai (2011) Br J Cancer 105; 1230
BIC nucleic acid #: 3633C>A
Exon 11 Nonsense c.3442C>T p.Q1148* 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3670C>T
Exon 11 Insertion c.3449_3450insAG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3677_3678insAG
Exon 11 Insertion c.3452dupT 5 - Definitely pathogenic >0.99 Zweemer (1998) Am J Obstet Gynecol 178; 85
BIC nucleic acid #: 3680dupT
Exon 11 Deletion c.3453delC 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 3681delC
Exon 11 Nonsense c.3455T>G p.L1152* 5 - Definitely pathogenic >0.99 Gutiérrez-Enríquez (2011) Breast Cancer Res Treat 127; 611
BIC nucleic acid #: 3683T>G
Exon 11 Deletion c.3465_3466delTT 5 - Definitely pathogenic >0.99 Yazici (2002) Hum Mutat 20; 28
BIC nucleic acid #: 3693_3694delTT
Exon 11 Deletion c.3487delG 5 - Definitely pathogenic >0.99 Leegte (2005) J Med Genet 42; e20
BIC nucleic acid #: 3715delG
Exon 11 Deletion c.3506delA 5 - Definitely pathogenic >0.99 Akbari (2008) Oncogene 27; 1290
BIC nucleic acid #: 3734delA
Exon 11 Missense c.3509C>T p.A1170V 3 - Uncertain 0.2299 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 3737C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.892
  • Sum Family: 16.4
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
Exon 11 Missense c.3515C>T p.S1172L 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 #: 3743C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.12882
  • Pathology:
  • Sum Family: 0.00044
  • Co-occurrence: 0.27542
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.3531_3534del4 5 - Definitely pathogenic >0.99 Loizidou (2007) Clin Genet 71; 165
BIC nucleic acid #: 3759_3762del4
Exon 11 Deletion c.3545_3546delTT 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3773_3774delTT
Exon 11 Deletion c.3554_3555delCA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3782_3783delCA
Exon 11 Deletion c.3554_3563del10 5 - Definitely pathogenic >0.99 Koumpis (2011) Hered Cancer Clin Pract 9;
BIC nucleic acid #: 3782_3791del10
Exon 11 Deletion c.3556_3565del10 5 - Definitely pathogenic >0.99 Konstantopoulou (2008) Breast Cancer Res Treat 107; 431
BIC nucleic acid #: 3784_3793del10
Exon 11 Missense c.3568C>T p.R1190W 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 #: 3796C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.00759
  • Pathology:
  • Sum Family: 0.01023
  • Co-occurrence: 0.06761
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.3570delG 5 - Definitely pathogenic >0.99 De Leon Matsuda (2002) Int J Cancer 98; 596
BIC nucleic acid #: 3798delG
Exon 11 Missense c.3581G>A p.G1194D 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 #: 3809G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.05754
  • Pathology:
  • Sum Family: 0.0389
  • Co-occurrence: 1.41254
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.3593delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3821delA
Exon 11 Deletion c.3596_3599del4 5 - Definitely pathogenic >0.99 Becker (2012) Breast Cancer Res Treat 135; 167
BIC nucleic acid #: 3824_3827del4
Exon 11 Deletion c.3599_3600delGT p.C1200* 5 - Definitely pathogenic >0.99 De Leon Matsuda (2002) Int J Cancer 98; 596
BIC nucleic acid #: 3827_3828delGT
Exon 11 Insertion c.3641dupT 5 - Definitely pathogenic >0.99 Csokay (1999) Cancer Res 59; 995
BIC nucleic acid #: 3869dupT
Exon 11 Deletion c.3645delG 5 - Definitely pathogenic >0.99 Lara (2012) BR 45, 117
BIC nucleic acid #: 3873delG
Exon 11 Indel c.3645_3646delGTins7 5 - Definitely pathogenic >0.99 Hamann (2003) Eur J Hum Genet 11; 464
BIC nucleic acid #: 3873_3874delGTins7
Exon 11 Deletion c.3680_3681delTG 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 3908_3909delTG
Exon 11 Missense c.3682A>G p.N1228D 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 #: 3910A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.00912
  • Pathology:
  • Sum Family: 0.44668
  • Co-occurrence: 0.06607
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.3717delA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3945delA
Exon 11 Indel c.3723_3725delTAGinsAT 5 - Definitely pathogenic >0.99 Monne (2007) Fam Cancer 6; 73
BIC nucleic acid #: 3951_3953delTAGinsAT
Exon 11 Deletion c.3744_3747del4 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3972_3975del4
Exon 11 Insertion c.3751dupA 5 - Definitely pathogenic >0.99 Yazici (2002) Hum Mutat 20; 28
BIC nucleic acid #: 3979dupA
Exon 11 Deletion c.3772delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 4000delA
Exon 11 Deletion c.3778_3779delTT 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 4006_4007delTT
Exon 11 Nonsense c.3785C>G p.S1262* 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 4013C>G
Exon 11 Missense c.3793T>A p.C1265S 1 - Not pathogenic or of no clinical significance 0.00088 Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 4021T>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.042
  • Pathology:
  • Sum Family:
  • Co-occurrence: 1.0294
  • Functional assay:
  • Products of LRs:
Exon 11 Nonsense c.3812C>G p.S1271* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 4040C>G
Exon 11 Deletion c.3824_3827del4 5 - Definitely pathogenic >0.99 Rashid (2006) Int J Cancer 119; 2832
BIC nucleic acid #: 4052_4055del4
Exon 11 Deletion c.3830delA 5 - Definitely pathogenic >0.99 Sakayori (2003) J Hum Genet 48; 130
BIC nucleic acid #: 4058delA
Exon 11 Deletion c.3836delA 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 4064delA
Exon 11 Deletion c.3837delT 5 - Definitely pathogenic >0.99 Couch (2007) Cancer Epidemiol Biomarkers Prev 16; 342
BIC nucleic acid #: 4065delT
Exon 11 Missense c.3839A>T p.D1280V 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 #: 4067A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 5.24807
  • Pathology:
  • Sum Family: 0.00269
  • Co-occurrence: 0.09772
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.3847delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4075delG
Exon 11 Deletion c.3847_3848delGT 5 - Definitely pathogenic >0.99 Tavtigian (1996) Nat Genet 12; 333
BIC nucleic acid #: 4075_4076delGT
Exon 11 Deletion c.3849_3852del4 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 4077_4080del4
Exon 11 Deletion c.3858_3860delAAA p.K1286del 2 - Likely not pathogenic or of little clinical significance >0.99 Malone (2000) Cancer 88; 1393
BIC nucleic acid #: 4086_4088delAAA
Exon 11 Deletion c.3860delA 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 4088delA
Exon 11 Deletion c.3860_3863del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4088_4091del4
Exon 11 Insertion c.3860dupA 5 - Definitely pathogenic >0.99 Sarantaus (2000) Eur J Hum Genet 8; 757
BIC nucleic acid #: 4088dupA
Exon 11 Insertion c.3863dupA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 4091dupA
Exon 11 Deletion c.3865_3868del4 5 - Definitely pathogenic >0.99 Shiri-Sverdlov (2000) Hum Mutat 16; 491 Becker (2012) Breast Cancer Res Treat 135: 167 [Functional characterisation]
BIC nucleic acid #: 4093_4096del4
Exon 11 Deletion c.3866_3867delAA 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 4094_4095delAA
Exon 11 Nonsense c.3871C>T p.Q1291* 5 - Definitely pathogenic >0.99 Ma (2008) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25; 195
BIC nucleic acid #: 4099C>T
Exon 11 Deletion c.3873delA 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 4101delA
Exon 11 Deletion c.3887delA 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 4115delA
Exon 11 Deletion c.3900_3902delGAC p.M1300I+p.1301Tdel 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4128_4130delGAC
Exon 11 Deletion c.3904_3906delACT p.T1302del 5 - Definitely pathogenic >0.99 Tavtigian (1996) Nat Genet 12; 333 Wu (2005) Cancer Res 65: 417 [Functional characterisation]
BIC nucleic acid #: 4132_4134delACT
Exon 11 Deletion c.3915delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4143delT
Exon 11 Missense c.3916G>A p.V1306I 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 #: 4144G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.42658
  • Pathology:
  • Sum Family: 0.01288
  • Co-occurrence: 0.06166
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.3919delG 5 - Definitely pathogenic >0.99 Armakolas (2001) Hum Mutat 19; 81
BIC nucleic acid #: 4147delG
Exon 11 Nonsense c.3922G>T p.E1308* 5 - Definitely pathogenic >0.99 Duran (2003) Hum Mutat 21; 448
BIC nucleic acid #: 4150G>T
Exon 11 Deletion c.3929delC 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 4157delC
Exon 11 Deletion c.3936_3954del19 5 - Definitely pathogenic >0.99 de Sanjose (2003) Int J Cancer 106; 588
BIC nucleic acid #: 4164_4183del19
Exon 11 Deletion c.3939delC p.Y1313* 5 - Definitely pathogenic >0.99 Pohlreich (2005) Breast Cancer Res 7; R728
BIC nucleic acid #: 4167delC
Exon 11 Nonsense c.3958G>T p.E1320* 5 - Definitely pathogenic >0.99 Haraldsson (1998) Cancer Res 58; 1367
BIC nucleic acid #: 4186G>T
Exon 11 Nonsense c.3967A>T p.K1323* 5 - Definitely pathogenic >0.99 Zhen (2015) GENET MED 17, 569
BIC nucleic acid #: 4195A>T
Exon 11 Deletion c.3971delA 5 - Definitely pathogenic >0.99 El Saghir (2015) ONC 20, 357
BIC nucleic acid #: 4199delA
Exon 11 Insertion c.3975_3978dup4 5 - Definitely pathogenic >0.99 Plaschke (2000) J Med Genet 37; e17
BIC nucleic acid #: 4203_4206dup4
Exon 11 Nonsense c.4001T>A p.L1334* 5 - Definitely pathogenic >0.99 Santarosa (1999) Int J Cancer 83; 5
BIC nucleic acid #: 4229T>A
Exon 11 Insertion c.4005dupA 5 - Definitely pathogenic >0.99 Ramus (1997) Am J Hum Genet 60; 1242
BIC nucleic acid #: 4233dupA
Exon 11 Deletion c.4021delT 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 4249delT
Exon 11 Indel c.4030_4035del6insC 5 - Definitely pathogenic >0.99 Blay (2013) BMC Cancer 13;
BIC nucleic acid #: 4258_4263del6insC
Exon 11 Deletion c.4037_4038delCT 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 4265_4266delCT
Exon 11 Missense c.4046T>C p.I1349T 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 #: 4274T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.22909
  • Co-occurrence: 0.00191
  • Functional assay:
  • Products of LRs:
Exon 11 Missense c.4054G>T p.D1352Y 2 - Likely not pathogenic or of little clinical significance 0.0414 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 4282G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.732
  • Sum Family: 2.89
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
Exon 11 Missense c.4061C>T p.T1354M 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 #: 4289C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.02754
  • Pathology:
  • Sum Family: 0.07586
  • Co-occurrence: 1.86209
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.4076delC 5 - Definitely pathogenic >0.99 Ozcelik (2003) J Med Genet 40; e91
BIC nucleic acid #: 4304delC
Exon 11 Missense c.4094G>A p.C1365Y 1 - Not pathogenic or of no clinical significance 0.00013 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 4322G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.41687
  • Pathology:
  • Sum Family: 0.26915
  • Co-occurrence: 0.05888
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.4095delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4323delT
Exon 11 Insertion c.4097_4098ins4 5 - Definitely pathogenic >0.99 Gayther (1999) Am J Hum Genet 65; 1021
BIC nucleic acid #: 4325_4326ins4
Exon 11 Insertion c.4101dupA 5 - Definitely pathogenic >0.99 Al-Mulla (2009) J Clin Pathol 62; 350
BIC nucleic acid #: 4329dupA
Exon 11 Deletion c.4101delA 5 - Definitely pathogenic >0.99 Al-Mulla (2009) J Clin Pathol 62; 350
BIC nucleic acid #: 4329delA
Exon 11 Nonsense c.4111C>T p.Q1371* 5 - Definitely pathogenic >0.99 Torres-Mejia (2015) CEBP 24, 498
BIC nucleic acid #: 4339C>T
Exon 11 Deletion c.4121delA 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 4349delA
Exon 11 Deletion c.4127_4130del4 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 4355_4358del4
Exon 11 Insertion c.4131_4132ins6 p.T1378* 5 - Definitely pathogenic >0.99 Delgado (2002) Cancer Genet Cytogenet 133; 24
BIC nucleic acid #: 4359_4360ins6
Exon 11 Deletion c.4135delC 5 - Definitely pathogenic >0.99 Nelson-Moseke (2013) FAM CAN 12, 83
BIC nucleic acid #: 4363delC
Exon 11 Deletion c.4135delC 5 - Definitely pathogenic >0.99 Nelson-Moseke (2013) Fam Cancer 12; 83
BIC nucleic acid #: 4363delC
Exon 11 Insertion c.4136dupA 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 4364dupA
Exon 11 Deletion c.4137_4141del5 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 4365_4369del5
Exon 11 Insertion c.4139_4140dupTT 5 - Definitely pathogenic >0.99 Dobričić (2010) Cancer Genet Cytogenet 202; 27
BIC nucleic acid #: 4367_4368dupTT
Exon 11 Deletion c.4151delT 5 - Definitely pathogenic >0.99 Ang (2007) Cancer Epidemiol Biomarkers Prev 16; 2276
BIC nucleic acid #: 4379delT
Exon 11 Indel c.4163_4164delCTinsA 5 - Definitely pathogenic >0.99 S/NI Consortium (2003) Br J Cancer 88; 1256
BIC nucleic acid #: 4391_4392delCTinsA
Exon 11 Deletion c.4169delT 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 4397delT
Exon 11 Deletion c.4171delG 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 4399delG
Exon 11 Missense c.4187A>G p.Q1396R 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 #: 4415A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.02512
  • Pathology:
  • Sum Family: 0.95499
  • Co-occurrence: 0.0182
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.4188delA 5 - Definitely pathogenic >0.99 Becker (2012) Breast Cancer Res Treat 135; 167
BIC nucleic acid #: 4416delA
Exon 11 Deletion c.4211_4215del5 5 - Definitely pathogenic >0.99 Cunningham (2014) SCI REP 4, 4026
BIC nucleic acid #: 4439_4443del5
Exon 11 Nonsense c.4211C>G p.S1404* 5 - Definitely pathogenic >0.99 Guan (2015) FAM CAN 14, 9
BIC nucleic acid #: 4439C>G
Exon 11 Nonsense c.4222C>T p.Q1408* 5 - Definitely pathogenic >0.99 Bayraktar (2012) Cancer 118; 1515
BIC nucleic acid #: 4450C>T
Exon 11 Deletion c.4223delA 5 - Definitely pathogenic >0.99 Brozek (2008) Gynecol Oncol 108; 433
BIC nucleic acid #: 4451delA
Exon 11 Insertion c.4229_4230insA 5 - Definitely pathogenic >0.99 Schneegans (2012) Fam Cancer 11; 181
BIC nucleic acid #: 4457_4458insA
Exon 11 Nonsense c.4243G>T p.E1415* 5 - Definitely pathogenic >0.99 Walsh (2011) Proc Natl Acad Sci U S A 108; 18032
BIC nucleic acid #: 4471G>T
Exon 11 Missense c.4258G>T p.D1420Y 1 - Not pathogenic or of no clinical significance 0.00010 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 4486G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.02
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 1.11
  • Sum Family: 4.52
  • Co-occurrence: 0.001
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.4258delG 5 - Definitely pathogenic >0.99 Hakansson (1997) Am J Hum Genet 60; 1068
BIC nucleic acid #: 4486delG
Exon 11 Insertion c.4276dupA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 4504dupA
Exon 11 Insertion c.4284dupT 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 4512dupT
Exon 11 Missense c.4301A>T p.K1434I 2 - Likely not pathogenic or of little clinical significance 0.0405 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 4529A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 2.07
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.4306_4307delAT 5 - Definitely pathogenic >0.99 Torres-Mejia (2015) CEBP 24, 498
BIC nucleic acid #: 4534_4535delAT
Exon 11 Deletion c.4314delC 5 - Definitely pathogenic >0.99 Peelen (2000) Br J Cancer 82; 151
BIC nucleic acid #: 4542delC
Exon 11 Deletion c.4339delG 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 4567delG
Exon 11 Nonsense c.4354C>T p.Q1452* 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 4582C>T
Exon 11 Deletion c.4380_4381delTT 5 - Definitely pathogenic >0.99 Peixoto (2006) Fam Cancer 5; 379
BIC nucleic acid #: 4608_4609delTT
Exon 11 Deletion c.4398_4402del5 5 - Definitely pathogenic >0.99 Agalliu (2007) Br J Cancer 97; 826
BIC nucleic acid #: 4626_4630del5
Exon 11 Deletion c.4405_4409del5 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 4633_4637del5
Exon 11 Deletion c.4409_4413del5 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 4637_4641del5
Exon 11 Deletion c.4414_4415delAA 5 - Definitely pathogenic >0.99 Syamala (2007) J Cancer Res Clin Oncol 133; 867
BIC nucleic acid #: 4642_4643delAA
Exon 11 Deletion c.4415_4418del4 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 4643_4646del4
Exon 11 Insertion c.4436_4437ins4 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 4664_4665ins4
Exon 11 Nonsense c.4440T>G p.Y1480* 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 4668T>G
Exon 11 Deletion c.4449delA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 4677delA
Exon 11 Deletion c.4456_4459del4 5 - Definitely pathogenic >0.99 Verhoog (1999) J Clin Oncol 17; 3396
BIC nucleic acid #: 4684_4687del4
Exon 11 Deletion c.4464_4465delCA 5 - Definitely pathogenic >0.99 Norquist (2011) J Clin Oncol 29; 3008
BIC nucleic acid #: 4692_4693delCA
Exon 11 Nonsense c.4465A>T p.K1489* 5 - Definitely pathogenic >0.99 Manguoglu (2010) Cancer Genet Cytogenet 203; 230
BIC nucleic acid #: 4693A>T
Exon 11 Deletion c.4471_4474del4 5 - Definitely pathogenic >0.99 Pal (2014) JCOMMG 5, 157
BIC nucleic acid #: 4699_4702del4
Exon 11 Deletion c.4472_4475del4 5 - Definitely pathogenic >0.99 Cunningham (2014) SCI REP 4, 4026
BIC nucleic acid #: 4700_4703del4
Exon 11 Deletion c.4478_4481del4 5 - Definitely pathogenic >0.99 Tavtigian (1996) Nat Genet 12; 333
BIC nucleic acid #: 4706_4709del4
Exon 11 Insertion c.4480dupA 5 - Definitely pathogenic >0.99 Verhoog (1999) J Clin Oncol 17; 3396
BIC nucleic acid #: 4708dupA
Exon 11 Deletion c.4533delA 5 - Definitely pathogenic >0.99 Drusedau (2013) EJHG 21, 1361
BIC nucleic acid #: 4761delA
Exon 11 Deletion c.4535delG 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 4763delG
Exon 11 Insertion c.4536_4539dup4 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 4764_4767dup4
Exon 11 Deletion c.4544delA 5 - Definitely pathogenic >0.99 Steinmann (2001) Br J Cancer 85; 850
BIC nucleic acid #: 4772delA
Exon 11 Insertion c.4546dupA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 4774dupA
Exon 11 Deletion c.4551_4554del4 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 4779_4782del4
Exon 11 Nonsense c.4552G>T p.E1518* 5 - Definitely pathogenic >0.99 Hamann (2002) J Med Genet 39; e12
BIC nucleic acid #: 4780G>T
Exon 11 Deletion c.4554delA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 4782delA
Exon 11 Deletion c.4556delC 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 4784delC
Exon 11 Missense c.4570T>G p.F1524V 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 #: 4798T>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1.47911
  • Pathology:
  • Sum Family: 0.01023
  • Co-occurrence: 0.06607
  • Functional assay:
  • Products of LRs:
Exon 11 Missense c.4585G>A p.G1529R 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 #: 4813G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00008
  • Co-occurrence: 0.00011
  • Functional assay:
  • Products of LRs:
Exon 11 Insertion c.4593dupA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 4821dupA
Exon 11 Deletion c.4593delA 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 4821delA
Exon 11 Deletion c.4631delA 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 4859delA
Exon 11 Insertion c.4631dupA 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 4859dupA
Exon 11 Insertion c.4638dupT 5 - Definitely pathogenic >0.99 Vaidyanathan (2009) J Biosci 34; 415
BIC nucleic acid #: 4866dupT
Exon 11 Deletion c.4638delT 5 - Definitely pathogenic >0.99 Jakubowska (2003) Eur J Hum Genet 11; 955
BIC nucleic acid #: 4866delT
Exon 11 Deletion c.4647_4650del4 5 - Definitely pathogenic >0.99 Plaschke (2000) J Med Genet 37; e17
BIC nucleic acid #: 4875_4878del4
Exon 11 Nonsense c.4648G>T p.E1550* 5 - Definitely pathogenic >0.99 Hirsch (2004) Blood 103; 2554
BIC nucleic acid #: 4876G>T
Exon 11 Nonsense c.4684C>T p.Q1562* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4912C>T
Exon 11 Insertion c.4695_4698dup4 5 - Definitely pathogenic >0.99 Syamala (2007) J Cancer Res Clin Oncol 133; 867
BIC nucleic acid #: 4923_4926dup4
Exon 11 Deletion c.4712_4713delAG 5 - Definitely pathogenic >0.99 Lancaster (1996) Nat Genet 13; 238
BIC nucleic acid #: 4940_4941delAG
Exon 11 Insertion c.4731dupA 5 - Definitely pathogenic >0.99 Ahmad (2012) Clin Genet 82; 594
BIC nucleic acid #: 4959dupA
Exon 11 Deletion c.4731delA 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 4959delA
Exon 11 Insertion c.4740_4741insTG 5 - Definitely pathogenic >0.99 Gonzalez-Hormazabal (2010) Breast Cancer Res Treat 126; 705
BIC nucleic acid #: 4968_4969insTG
Exon 11 Insertion c.4740_4741dupTG 5 - Definitely pathogenic >0.99 Carraro (2013) PLoS One 8; e57581
BIC nucleic acid #: 4968_4969dupTG
Exon 11 Insertion c.4742_4743insTG 5 - Definitely pathogenic >0.99 Gallardo (2006) Breast Cancer Res Treat 95; 81
BIC nucleic acid #: 4970_4971insTG
Exon 11 Deletion c.4766delC 5 - Definitely pathogenic >0.99 Ahn (2007) Cancer Lett 245; 90
BIC nucleic acid #: 4994delC
Exon 11 Deletion c.4769delA 5 - Definitely pathogenic >0.99 Konstantopoulou (2014) CLIN GENET 85, 36
BIC nucleic acid #: 4997delA
Exon 11 Nonsense c.4774A>T p.K1592* 5 - Definitely pathogenic >0.99 Lim (2010) Breast Cancer Res 12; R78
BIC nucleic acid #: 5002A>T
Exon 11 Deletion c.4780delA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5008delA
Exon 11 Deletion c.4797delT 5 - Definitely pathogenic >0.99 Bolufer (2005) Med Clin (Barc) 124; 10
BIC nucleic acid #: 5025delT
Exon 11 Deletion c.4808delA 5 - Definitely pathogenic >0.99 Esteves (2009) Braz J Med Biol Res 42; 453
BIC nucleic acid #: 5036delA
Exon 11 Insertion c.4808dupA 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 5036dupA
Exon 11 Insertion c.4828dupG 5 - Definitely pathogenic >0.99 Al-Mulla (2009) J Clin Pathol 62; 350
BIC nucleic acid #: 5056dupG
Exon 11 Deletion c.4829_4830delTG 5 - Definitely pathogenic >0.99 Ahn (2007) Cancer Lett 245; 90
BIC nucleic acid #: 5057_5058delTG
Exon 11 Deletion c.4845_4846delCT 5 - Definitely pathogenic >0.99 Machackova (2001) Hum Mutat 18; 545
BIC nucleic acid #: 5073_5074delCT
Exon 11 Deletion c.4848_4849delAA 5 - Definitely pathogenic >0.99 Schrader (2012) Obstet Gynecol 120; 235
BIC nucleic acid #: 5076_5077delAA
Exon 11 Nonsense c.4859T>G p.L1620* 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 5087T>G
Exon 11 Deletion c.4876_4877delAA 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 5104_5107delAA
Exon 11 Nonsense c.4889C>A p.S1630* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5117C>A
Exon 11 Nonsense c.4889C>G p.S1630* 5 - Definitely pathogenic >0.99 Ozcelik (2003) J Med Genet 40; e91
BIC nucleic acid #: 5117C>G
Exon 11 Deletion c.4894_4895delAG 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 5122_5123delAG
Exon 11 Deletion c.4918_4921del4 5 - Definitely pathogenic >0.99 Barber (2005) Br J Haematol 130; 796
BIC nucleic acid #: 5146_5149del4
Exon 11 Deletion c.4926_4935del10 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5154_5163del10
Exon 11 Missense c.4928T>C p.V1643A 3 - Uncertain 0.1391 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5156T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology:
  • Sum Family: 7.92
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.4935delA 5 - Definitely pathogenic >0.99 Sermijn (2004) J Med Genet 41; e23
BIC nucleic acid #: 5163delA
Exon 11 Deletion c.4936_4939del4 5 - Definitely pathogenic >0.99 Wagner (2004) Blood 103; 3226
BIC nucleic acid #: 5164_5167del4
Exon 11 Deletion c.4940_4941delCA 5 - Definitely pathogenic >0.99 De Leon Matsuda (2002) Int J Cancer 98; 596
BIC nucleic acid #: 5168_5169delCA
Exon 11 Deletion c.4947_4948delAA 5 - Definitely pathogenic >0.99 Walsh (2011) Proc Natl Acad Sci U S A 108; 18032
BIC nucleic acid #: 5175_5176delAA
Exon 11 Deletion c.4952delC 5 - Definitely pathogenic >0.99 Sinilnikova (1999) Int J Cancer 83; 325
BIC nucleic acid #: 5180delC
Exon 11 Nonsense c.4962T>A p.C1654* 5 - Definitely pathogenic >0.99 Carraro (2013) PLoS One 8; e57581
BIC nucleic acid #: 5190T>A
Exon 11 Insertion c.4964dupA 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 5192dupA
Exon 11 Nonsense c.4965C>A p.Y1655* 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 5193C>A
Exon 11 Nonsense c.4965C>G p.Y1655* 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 5193C>G
Exon 11 Deletion c.4965delC 5 - Definitely pathogenic >0.99 Norquist (2011) J Clin Oncol 29; 3008
BIC nucleic acid #: 5193delC
Exon 11 Deletion c.4981delT 5 - Definitely pathogenic >0.99 Kote-Jarai (2011) Br J Cancer 105; 1230
BIC nucleic acid #: 5209delT
Exon 11 Deletion c.4987_4990del4 5 - Definitely pathogenic >0.99 King (2001) JAMA 286; 2251
BIC nucleic acid #: 5215_5218del4
Exon 11 Insertion c.4999dupT 5 - Definitely pathogenic >0.99 Valarmathi (2004) Hum Mutat 23; 205
BIC nucleic acid #: 5227dupT
Exon 11 Insertion c.5014dupT 5 - Definitely pathogenic >0.99 Valarmathi (2004) Hum Mutat 23; 205
BIC nucleic acid #: 5242dupT
Exon 11 Deletion c.5035delA 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 5263delA
Exon 11 Deletion c.5042_5043delTG 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 5270_5271delTG
Exon 11 Deletion c.5045delG 5 - Definitely pathogenic >0.99 King (2001) JAMA 286; 2251
BIC nucleic acid #: 5273delG
Exon 11 Indel c.5065_5066delGCinsAAA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5293_5294delGCinsAAA
Exon 11 Missense c.5070A>C p.K1690N 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 #: 5298A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00003
  • Co-occurrence: 0.29512
  • Functional assay:
  • Products of LRs:
Exon 11 Insertion c.5073dupA 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 5301dupA
Exon 11 Insertion c.5086_5087insA 5 - Definitely pathogenic >0.99 Papi (2009) Breast Cancer Res Treat 117; 497
BIC nucleic acid #: 5314_5315insA
Exon 11 Nonsense c.5101C>T p.Q1701* 5 - Definitely pathogenic >0.99 Novakovic (2012) Int J Oncol epub; epub
BIC nucleic acid #: 5329C>T
Exon 11 Nonsense c.5107G>T p.E1703* 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5335G>T
Exon 11 Indel c.5115_5119del5insG 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 5343_5347del5insG
Exon 11 Deletion c.5115_5119del5 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 5343_5347del5
Exon 11 Deletion c.5116_5119del4 5 - Definitely pathogenic >0.99 Infante (2006) J Hum Genet 51; 611
BIC nucleic acid #: 5344_5347del4
Exon 11 Deletion c.5130_5133del4 5 - Definitely pathogenic >0.99 Friedman (1997) Am J Hum Genet 60; 313
BIC nucleic acid #: 5358_5361del4
Exon 11 Deletion c.5131delG 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 5359delG
Exon 11 Deletion c.5132_5135del4 5 - Definitely pathogenic >0.99 Kote-Jarai (2007) Cancer Lett 247; 259
BIC nucleic acid #: 5360_5363del4
Exon 11 Deletion c.5141_5144del4 5 - Definitely pathogenic >0.99 Salgado (2005) Oncol Rep 14; 85
BIC nucleic acid #: 5369_5372del4
Exon 11 Deletion c.5146_5149del4 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 5374_5377del4
Exon 11 Insertion c.5158dupT 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol epub; epub
BIC nucleic acid #: 5386dupT
Exon 11 Insertion c.5164_5168dup5 5 - Definitely pathogenic >0.99 Rodriguez (2008) Fam Cancer 7; 275
BIC nucleic acid #: 5392_5396dup5
Exon 11 Deletion c.5164_5165delAG 5 - Definitely pathogenic >0.99 Hakansson (1997) Am J Hum Genet 60; 1068
BIC nucleic acid #: 5392_5393delAG
Exon 11 Deletion c.5171delT 5 - Definitely pathogenic >0.99 Zhang (2012) Breast Cancer Res Treat 132; 421
BIC nucleic acid #: 5399delT
Exon 11 Deletion c.5180delA 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 5408delA
Exon 11 Insertion c.5189dupA 5 - Definitely pathogenic >0.99 Ruiz (2014) BMRI 2014, 542541
BIC nucleic acid #: 5417dupA
Exon 11 Insertion c.5197dupT 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 5425dupT
Exon 11 Missense c.5198C>T p.S1733F 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 #: 5426C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00001
  • Co-occurrence: 5.7544
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.5207_5208delAA 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 5435_5436delAA
Exon 11 Deletion c.5208delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5436delA
Exon 11 Deletion c.5213_5216del4 5 - Definitely pathogenic >0.99 Montagna (2002) Int J Cancer 98; 732
BIC nucleic acid #: 5441_5444del4
Exon 11 Deletion c.5217_5220del4 5 - Definitely pathogenic >0.99 Stuppia (2003) Hum Mutat 22; 178
BIC nucleic acid #: 5445_5448del4
Exon 11 Deletion c.5217_5221del5 5 - Definitely pathogenic >0.99 Hakansson (1997) Am J Hum Genet 60; 1068
BIC nucleic acid #: 5445_5449del5
Exon 11 Deletion c.5217_5223del7 5 - Definitely pathogenic >0.99 Malone (2000) Cancer 88; 1393
BIC nucleic acid #: 5445_5451del7
Exon 11 Deletion c.5217_5224del8 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 5445_5452del8
Exon 11 Deletion c.5218_5223del6 p.L1740_S1741del 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 5446_5451del6
Exon 11 Insertion c.5219dupT 5 - Definitely pathogenic >0.99 Smith (2012) Proc Biol Sci 279; 1389
BIC nucleic acid #: 5447dupT
Exon 11 Deletion c.5228_5233del6 p.S1743-S1744 5 - Definitely pathogenic >0.99 Hadiji-Abbes (2015) PB(P) epub, epub
BIC nucleic acid #: 5456_5461del6
Exon 11 Insertion c.5237dupC 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 5465dupC
Exon 11 Insertion c.5238dupT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 5466dupT
Exon 11 Insertion c.5239_5240insT 5 - Definitely pathogenic >0.99 Balabas (2010) Fam Cancer 9; 267
BIC nucleic acid #: 5467_5468insT
Exon 11 Insertion c.5241_5242insTA 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 5469_5470insTA
Exon 11 Deletion c.5244delC 5 - Definitely pathogenic >0.99 Berzina (2013) BMC Med Genet 14;
BIC nucleic acid #: 5472delC
Exon 11 Deletion c.5250delC 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 5478delC
Exon 11 Deletion c.5254delC 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5482delC
Exon 11 Deletion c.5270_5273del4 5 - Definitely pathogenic >0.99 Becker (2012) Breast Cancer Res Treat 135; 167
BIC nucleic acid #: 5498_5501del4
Exon 11 Missense c.5278T>G p.S1760A 2 - Likely not pathogenic or of little clinical significance 0.0121 Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5506T>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1.17
  • Pathology: 0.5
  • Sum Family:
  • Co-occurrence: 1.0253
  • Functional assay:
  • Products of LRs:
Exon 11 Nonsense c.5279C>G p.S1760* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 5507C>G
Exon 11 Nonsense c.5286T>A p.Y1762* 5 - Definitely pathogenic >0.99 Willems (2008) Clin Cancer Res 14; 2953
BIC nucleic acid #: 5514T>A
Exon 11 Deletion c.5290_5291delTC 5 - Definitely pathogenic >0.99 Reedy (2002) Gynecol Oncol 85; 255
BIC nucleic acid #: 5518_5517delTC
Exon 11 Nonsense c.5291C>G p.S1764* 5 - Definitely pathogenic >0.99 Stegel (2011) BMC Med Genet 12; 9
BIC nucleic acid #: 5519C>G
Exon 11 Deletion c.5299_5307del9 p.1767_1769del 5 - Definitely pathogenic >0.99 Patmasiriwat (2002) Hum Mutat 20; 230
BIC nucleic acid #: 5527_5535del9
Exon 11 Deletion c.5303_5304delTT 5 - Definitely pathogenic >0.99 Gayther (2000) Cancer Res 60; 4513
BIC nucleic acid #: 5531_5532delTT
Exon 11 Missense c.5312G>A p.G1771D 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 #: 5540G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00001
  • Co-occurrence: 0.70795
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.5350_5351delAA 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 5578_5579delAA
Exon 11 Indel c.5350_5351delAAinsT 5 - Definitely pathogenic >0.99 Infante (2006) J Hum Genet 51; 611
BIC nucleic acid #: 5578_5579delAAinsT
Exon 11 Deletion c.5351delA 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 5579delA
Exon 11 Insertion c.5351dupA 5 - Definitely pathogenic >0.99 Verhoog (1999) J Clin Oncol 17; 3396
BIC nucleic acid #: 5579dupA
Exon 11 Deletion c.5352delC 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 5580delC
Exon 11 Deletion c.5353_5354delAC 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 5581_5582delAC
Exon 11 Insertion c.5355dupT 5 - Definitely pathogenic >0.99 Peixoto (2006) Fam Cancer 5; 379
BIC nucleic acid #: 5583dupT
Exon 11 Deletion c.5380delG 5 - Definitely pathogenic >0.99 Zuradelli (2010) Breast Cancer Res Treat 124; 251
BIC nucleic acid #: 5608delG
Exon 11 Deletion c.5389_5390delGC 5 - Definitely pathogenic >0.99 Couch (1996) Nat Genet 13; 123
BIC nucleic acid #: 5617_5618delGC
Exon 11 Deletion c.5410_5411delGT 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 5638_5639delGT
Exon 11 Deletion c.5433_5436del4 5 - Definitely pathogenic >0.99 Novakovic (2012) Int J Oncol epub; epub
BIC nucleic acid #: 5661_5664del4
Exon 11 Nonsense c.5434G>T p.E1812* 5 - Definitely pathogenic >0.99 Litton (2012) Cancer 118; 321
BIC nucleic acid #: 5662G>T
Exon 11 Deletion c.5439delT 5 - Definitely pathogenic >0.99 Jara (2006) Cancer Genet Cytogenet 166; 36
BIC nucleic acid #: 5667delT
Exon 11 Deletion c.5454delA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5682delA
Exon 11 Missense c.5455C>T p.P1819S 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 #: 5683C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.02951
  • Pathology:
  • Sum Family: 0.00003
  • Co-occurrence: 5.88844
  • Functional assay:
  • Products of LRs:
Exon 11 Insertion c.5466dupT 5 - Definitely pathogenic >0.99 Vaziri (2000) Hum Mutat 17; 74
BIC nucleic acid #: 5694dupT
Exon 11 Insertion c.5471dupA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5699dupA
Exon 11 Deletion c.5471delA 5 - Definitely pathogenic >0.99 Cho (2011) Surg Today 41; 1665
BIC nucleic acid #: 5699delA
Exon 11 Deletion c.5542delA 5 - Definitely pathogenic >0.99 Torres-Mejia (2015) CEBP 24, 498
BIC nucleic acid #: 5770delA
Exon 11 Deletion c.5560_5561delGT 5 - Definitely pathogenic >0.99 Beristain (2007) Breast Cancer Res Treat 106; 255
BIC nucleic acid #: 5788_5789delGT
Exon 11 Deletion c.5569_5573del5 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 5797_5801del5
Exon 11 Nonsense c.5569G>T p.E1857* 5 - Definitely pathogenic >0.99 Syrjakoski (2000) J Natl Cancer Inst 92; 1529
BIC nucleic acid #: 5797G>T
Exon 11 Deletion c.5576_5579del4 5 - Definitely pathogenic >0.99 Foster (1996) Cancer Res 56; 3622
BIC nucleic acid #: 5804_5807del4
Exon 11 Deletion c.5577_5580del4 5 - Definitely pathogenic >0.99 Piek (2003) Fam Cancer 2; 73
BIC nucleic acid #: 5805_5808del4
Exon 11 Deletion c.5580_5584del5 5 - Definitely pathogenic >0.99 Syrjakoski (2004) Neoplasia 6; 541
BIC nucleic acid #: 5808_5812del5
Exon 11 Deletion c.5583delA p.V1862* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 5811delA
Exon 11 Insertion c.5583dupA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5811dupA
Exon 11 Deletion c.5592_5593delCA 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 5820_5821delCA
Exon 11 Deletion c.5595_5596delAT 5 - Definitely pathogenic >0.99 Ligtenberg (1999) Br J Cancer 79; 1475
BIC nucleic acid #: 5823_5824delAT
Exon 11 Indel c.5609_5610delTCinsAG p.F1870* 5 - Definitely pathogenic >0.99 Howlett (2002) Science 297; 606 Becker (2012) Breast Cancer Res Treat 135: 167 [Functional characterisation]
BIC nucleic acid #: 5837_5838delTCinsAG
Exon 11 Nonsense c.5614A>T p.K1872* 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 5842A>T
Exon 11 Deletion c.5616_5620del5 5 - Definitely pathogenic >0.99 Pal (2004) Cancer Epidemiol Biomarkers Prev 13; 1794
BIC nucleic acid #: 5844_5848del5
Exon 11 Deletion c.5621_5624del4 5 - Definitely pathogenic >0.99 Serova (1997) Am J Hum Genet 60; 486
BIC nucleic acid #: 5849_5852del4
Exon 11 Deletion c.5624delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5852delA
Exon 11 Nonsense c.5626G>T p.E1876* 5 - Definitely pathogenic >0.99 Phelan (1996) Nat Genet 13; 120
BIC nucleic acid #: 5854G>T
Exon 11 Deletion c.5631delC 5 - Definitely pathogenic >0.99 Torres-Mejia (2015) CEBP 24, 498
BIC nucleic acid #: 5859delC
Exon 11 Deletion c.5641_5644del4 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 5869_5872del4
Exon 11 Nonsense c.5645C>A p.S1882* 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5873C>A
Exon 11 Nonsense c.5645C>G p.S1882* 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 5873C>G
Exon 11 Deletion c.5650_5659del10 5 - Definitely pathogenic >0.99 Esteves (2009) Braz J Med Biol Res 42; 453
BIC nucleic acid #: 5878_5887del10
Exon 11 Insertion c.5653dupT 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 5881dupT
Exon 11 Nonsense c.5656C>T p.Q1886* 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 5884C>T
Exon 11 Deletion c.5665delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5893delA
Exon 11 Deletion c.5675delG 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 5903delG
Exon 11 Insertion c.5681dupA 5 - Definitely pathogenic >0.99 Edwards (2001) Hum Mutat 17; 220
BIC nucleic acid #: 5909dupA
Exon 11 Nonsense c.5682C>G p.Y1894* 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 5910C>G
Exon 11 Deletion c.5692delG 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 5920delG
Exon 11 Nonsense c.5699C>A p.S1900* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5927C>A
Exon 11 Nonsense c.5699C>G p.S1900* 5 - Definitely pathogenic >0.99 Yang (2015) PLOS ONE 10, e0125571
BIC nucleic acid #: 5927C>G
Exon 11 Deletion c.5701_5714del14 p.Glu1901* 5 - Definitely pathogenic >0.99 Janavicius (2014) CG 207, 195
BIC nucleic acid #: 5929_5942del14
Exon 11 Missense c.5710C>G p.L1904V 1 - Not pathogenic or of no clinical significance 0.00015 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 5938C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.13
  • Combined: 0.13
Observational data
  • Segregation: 0.03802
  • Pathology:
  • Sum Family: 0.46774
  • Co-occurrence: 0.05754
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.5720_5723del4 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 5948_5949del4
Exon 11 Deletion c.5722_5723delCT 5 - Definitely pathogenic >0.99 Wooster (1995) Nature 378; 789
BIC nucleic acid #: 5950_5951delCT
Exon 11 Nonsense c.5734G>T p.E1912* 5 - Definitely pathogenic >0.99 Rashid (2006) Int J Cancer 119; 2832
BIC nucleic acid #: 5962G>T
Exon 11 Nonsense c.5739T>A p.C1913* 5 - Definitely pathogenic >0.99 Hadjisavvas (2003) Hum Mutat 21; 171
BIC nucleic acid #: 5967T>A
Exon 11 Missense c.5752C>T p.H1918Y 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 #: 5980C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00501
  • Co-occurrence: 0.05623
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.5754_5755delTA 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 5982_5983delTA
Exon 11 Insertion c.5763dupT 5 - Definitely pathogenic >0.99 Pohlreich (2005) Breast Cancer Res 7; R728
BIC nucleic acid #: 5991dupT
Exon 11 Deletion c.5771_5774del4 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 5999_6002del4
Exon 11 Deletion c.5774_5777del4 5 - Definitely pathogenic >0.99 Shiri-Sverdlov (2000) Hum Mutat 16; 491
BIC nucleic acid #: 6002_6005del4
Exon 11 Nonsense c.5782G>T p.E1928* 5 - Definitely pathogenic >0.99 Palli (2004) Eur J Cancer 40; 2474
BIC nucleic acid #: 6010G>T
Exon 11 Missense c.5785A>G p.I1929V 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 #: 6013A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.05012
  • Pathology:
  • Sum Family: 0.42658
  • Co-occurrence: 0.01175
  • Functional assay:
  • Products of LRs:
Exon 11 Nonsense c.5789T>A p.L1930* 5 - Definitely pathogenic >0.99 Capalbo (2006) Ann Oncol 17S7; vii34
BIC nucleic acid #: 6017T>A
Exon 11 Deletion c.5789delT 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 6017delT
Exon 11 Nonsense c.5791C>T p.Q1931* 5 - Definitely pathogenic >0.99 Pal (2005) Cancer 104; 2807
BIC nucleic acid #: 6019C>T
Exon 11 Deletion c.5796_5797delTA 5 - Definitely pathogenic >0.99 Armakolas (2001) Hum Mutat 19; 81
BIC nucleic acid #: 6024_6025delTA
Exon 11 Deletion c.5799_5800delCC 5 - Definitely pathogenic >0.99 Fries (2002) Mil Med 167; 99
BIC nucleic acid #: 6027_6028delCC
Exon 11 Deletion c.5799_5802del4 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6027_6030del4
Exon 11 Deletion c.5804delA 5 - Definitely pathogenic >0.99 Maillet (2006) Cancer Genet Cytogenet 169; 62
BIC nucleic acid #: 6032delA
Exon 11 Deletion c.5810_5811delCT 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 6038_6039delCT
Exon 11 Deletion c.5820_5833del14 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6048_6061del14
Exon 11 Deletion c.5823delA 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 6051delA
Exon 11 Deletion c.5828delC 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 6056delC
Exon 11 Insertion c.5835_5843dup9 p.C1948* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6063_6071dup9
Exon 11 Insertion c.5836_5837insA 5 - Definitely pathogenic >0.99 Foster (1996) Cancer Res 56; 3622
BIC nucleic acid #: 6064_6065insA
Exon 11 Insertion c.5851_5854dup4 5 - Definitely pathogenic >0.99 De Leon Matsuda (2002) Int J Cancer 98; 596
BIC nucleic acid #: 6079_6082dup4
Exon 11 Deletion c.5851_5854del4 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 6079_6082del4
Exon 11 Nonsense c.5857G>T p.E1953* 5 - Definitely pathogenic >0.99 Serova-Sinilnikova (1997) Am J Hum Genet 60; 1236
BIC nucleic acid #: 6085G>T
Exon 11 Nonsense c.5864C>A p.S1955* 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 6092C>A
Exon 11 Nonsense c.5864C>G p.S1955* 5 - Definitely pathogenic >0.99 Zhang (2012) Breast Cancer Res Treat 132; 421
BIC nucleic acid #: 6092C>G
Exon 11 Insertion c.5869dupA 5 - Definitely pathogenic >0.99 Hernan (2015) CLTO epub, epub
BIC nucleic acid #: 6097dupA
Exon 11 Deletion c.5891delA 5 - Definitely pathogenic >0.99 de Juan (2009) Breast Cancer Res Treat 115; 405
BIC nucleic acid #: 6119delA
Exon 11 Missense c.5896C>T p.H1966Y 3 - Uncertain 0.0500 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 6124C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.892
  • Sum Family: 2.89
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.5898delT 5 - Definitely pathogenic >0.99 Duran (2003) Hum Mutat 21; 448
BIC nucleic acid #: 6126delT
Exon 11 Deletion c.5904_5907del4 5 - Definitely pathogenic >0.99 Noguchi (2000) Hum Mutat 17; 155
BIC nucleic acid #: 6132_6135del4
Exon 11 Nonsense c.5909C>A p.S1970* 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 6137C>A
Exon 11 Insertion c.5934dupT 5 - Definitely pathogenic >0.99 Goggins (1996) Cancer Res 56; 5360
BIC nucleic acid #: 6162dupT
Exon 11 Deletion c.5944delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6172delA
Exon 11 Insertion c.5945dupG 5 - Definitely pathogenic >0.99 Bonadona (2005) Genes Chromosomes Cancer 43; 404
BIC nucleic acid #: 6173dupG
Exon 11 Deletion c.5946delT 5 - Definitely pathogenic >0.99 Couch (1996) Nat Genet 13; 123 Wu (2005) Cancer Res 65: 417 [Functional characterisation]
BIC nucleic acid #: 6174delT
Exon 11 Deletion c.5946_5949del4 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 6174_6177del4
Exon 11 Deletion c.5946_5950del5 5 - Definitely pathogenic >0.99 Johannsson (1999) Eur J Cancer 35; 1248
BIC nucleic acid #: 6174_6178del5
Exon 11 Insertion c.5952dupA 5 - Definitely pathogenic >0.99 Valarmathi (2004) Hum Mutat 23; 205
BIC nucleic acid #: 6180dupA
Exon 11 Deletion c.5954_5955delCT 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 6182_6183delCT
Exon 11 Deletion c.5964_5965delAT 5 - Definitely pathogenic >0.99 Balabas (2010) Fam Cancer 9; 267
BIC nucleic acid #: 6192_6193delAT
Exon 11 Insertion c.5967dupA 5 - Definitely pathogenic >0.99 Thirthagiri (2008) Breast Cancer Res 10; R59
BIC nucleic acid #: 6195dupA
Exon 11 Nonsense c.5980C>T p.Q1994* 5 - Definitely pathogenic >0.99 Phelan (2002) Hum Mutat 20; 352
BIC nucleic acid #: 6208C>T
Exon 11 Nonsense c.5992C>T p.Q1998* 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 6220C>T
Exon 11 Deletion c.5993_5994delAA 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 6221_6222delAA
Exon 11 Insertion c.5996dupT 5 - Definitely pathogenic >0.99 Zhen (2015) GENET MED 17, 569
BIC nucleic acid #: 6224dupT
Exon 11 Deletion c.6014_6017del4 5 - Definitely pathogenic >0.99 Silva (2014) BMC MG 15, 55
BIC nucleic acid #: 6242_6245del4
Exon 11 Insertion c.6024dupG 5 - Definitely pathogenic >0.99 Salgado (2005) Oncol Rep 14; 85
BIC nucleic acid #: 6252dupG
Exon 11 Nonsense c.6025C>T p.Q2009* 5 - Definitely pathogenic >0.99 Pal (2005) Cancer 104; 2807
BIC nucleic acid #: 6253C>T
Exon 11 Insertion c.6033_6034insGT 5 - Definitely pathogenic >0.99 Yassaee (2002) Breast Cancer Res 4; R6
BIC nucleic acid #: 6261_6262insGT
Exon 11 Deletion c.6033_6034delTT 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 6261_6262delTT
Exon 11 Nonsense c.6037A>T p.K2013* 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 6265A>T
Exon 11 Nonsense c.6058G>T p.E2020* 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 6286G>T
Exon 11 Deletion c.6060_6063del4 5 - Definitely pathogenic >0.99 Bergman (2005) Fam Cancer 4; 89
BIC nucleic acid #: 6288_6291del4
Exon 11 Nonsense c.6065C>G p.S2022* 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 6293C>G
Exon 11 Deletion c.6071delA 5 - Definitely pathogenic >0.99 Couch (1996) Nat Genet 13; 123
BIC nucleic acid #: 6299delA
Exon 11 Deletion c.6078_6079delAA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6306_6307delAA
Exon 11 Insertion c.6079dupA 5 - Definitely pathogenic >0.99 Evans (2001) Fam Cancer 1; 131
BIC nucleic acid #: 6307dupA
Exon 11 Nonsense c.6082G>T p.E2028* 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 6310G>T
Exon 11 Deletion c.6082_6086del5 5 - Definitely pathogenic >0.99 Bergthorsson (2001) J Med Genet 38; 361
BIC nucleic acid #: 6310_6314del5
Exon 11 Nonsense c.6085G>T p.E2029* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6313G>T
Exon 11 Insertion c.6096dupT 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 6324dupT
Exon 11 Missense c.6100C>T p.R2034C 1 - Not pathogenic or of no clinical significance 0.00000 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 6328C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.178
  • Sum Family: 1.55
  • Co-occurrence: 0.001
  • Functional assay:
  • Products of LRs:
Exon 11 Nonsense c.6124C>T p.Q2042* 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 6352C>T
Exon 11 Nonsense c.6137C>A p.S2046* 5 - Definitely pathogenic >0.99 Pal (2013) JCOMMG epub, epub
BIC nucleic acid #: 6365C>A
Exon 11 Missense c.6143A>T p.N2048I 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 #: 6371A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.16596
  • Pathology:
  • Sum Family: 0.17783
  • Co-occurrence: 0.05248
  • Functional assay:
  • Products of LRs:
Exon 11 Insertion c.6147_6148insAA 5 - Definitely pathogenic >0.99 Saxena (2006) BMC Med Genet 7; 75
BIC nucleic acid #: 6375_6376insAA
Exon 11 Deletion c.6154delT 5 - Definitely pathogenic >0.99 Patmasiriwat (2002) Hum Mutat 20; 230
BIC nucleic acid #: 6382delT
Exon 11 Deletion c.6164delT 5 - Definitely pathogenic >0.99 Dutil (2012) Cancer Genet 205; 242
BIC nucleic acid #: 6392delT
Exon 11 Nonsense c.6169G>T p.G2057* 5 - Definitely pathogenic >0.99 Santarosa (1999) Int J Cancer 83; 5
BIC nucleic acid #: 6397G>T
Exon 11 Deletion c.6174delT 5 - Definitely pathogenic >0.99 Tamary (2010) Haematologica 95; 1300
BIC nucleic acid #: 6402delT
Exon 11 Deletion c.6198_6199delTT 5 - Definitely pathogenic >0.99 Schubert (1997) Am J Hum Genet 60; 1031
BIC nucleic acid #: 6426_6427delTT
Exon 11 Deletion c.6201delC 5 - Definitely pathogenic >0.99 Adem (2003) Cancer 97; 1
BIC nucleic acid #: 6429delC
Exon 11 Insertion c.6202dupA 5 - Definitely pathogenic >0.99 Santarosa (1999) Int J Cancer 83; 5
BIC nucleic acid #: 6430dupA
Exon 11 Deletion c.6206delT 5 - Definitely pathogenic >0.99 Serova-Sinilnikova (1997) Am J Hum Genet 60; 1236
BIC nucleic acid #: 6434delT
Exon 11 Deletion c.6209_6212del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6437_6440del4
Exon 11 Missense c.6220C>A p.H2074N 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 #: 6448C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.00032
  • Co-occurrence: 0.48978
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.6235delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6463delG
Exon 11 Nonsense c.6239T>G p.L2080* 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 6467T>G
Exon 11 Insertion c.6240dupA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6468dupA
Exon 11 Deletion c.6244delG 5 - Definitely pathogenic >0.99 Villarreal-Garza (2015) CANCER 121, 372
BIC nucleic acid #: 6472delG
Exon 11 Deletion c.6264_6268del5 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 6492_6496del5
Exon 11 Indel c.6267_6269delGCAinsC 5 - Definitely pathogenic >0.99 Vehmanen (1997) Am J Hum Genet 60; 1050
BIC nucleic acid #: 6495_6497delGCAinsC
Exon 11 Deletion c.6268_6269delCA 5 - Definitely pathogenic >0.99 Eerola (2005) Breast Cancer Res 7; R93
BIC nucleic acid #: 6496_6497delCA
Exon 11 Deletion c.6270_6271delTA 5 - Definitely pathogenic >0.99 Goelen (1999) J Med Genet 36; 304
BIC nucleic acid #: 6498_6499delTA
Exon 11 Deletion c.6275_6276delTT 5 - Definitely pathogenic >0.99 Wooster (1995) Nature 378; 789
BIC nucleic acid #: 6503_6504delTT
Exon 11 Deletion c.6276delT 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 6504delT
Exon 11 Deletion c.6280_6286del7 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 6508_6514del7
Exon 11 Deletion c.6302delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6530delA
Exon 11 Nonsense c.6308C>A p.S2103* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 6536C>A
Exon 11 Missense c.6323G>A p.R2108H 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 #: 6551G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 3.02E-06
  • Pathology:
  • Sum Family: 0.00191
  • Co-occurrence: 0.00316
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.6325_6326delGT 5 - Definitely pathogenic >0.99 Thirthagiri (2008) Breast Cancer Res 10; R59
BIC nucleic acid #: 6553_6554delGT
Exon 11 Deletion c.6335_6336delGA 5 - Definitely pathogenic >0.99 Rose (2000) Gynecol Oncol 77; 319
BIC nucleic acid #: 6563_6564delGA
Exon 11 Missense c.6338A>G p.N2113S 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 #: 6566A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.05888
  • Pathology:
  • Sum Family: 0.09333
  • Co-occurrence: 0.10233
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.6352_6353delGT 5 - Definitely pathogenic >0.99 Piek (2003) Fam Cancer 2; 73
BIC nucleic acid #: 6580_6581delGT
Exon 11 Deletion c.6353_6366del14 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 6581_6594del14
Exon 11 Nonsense c.6359C>G p.S2120* 5 - Definitely pathogenic >0.99 Palomba (2009) BMC Cancer 9; 245
BIC nucleic acid #: 6587C>G
Exon 11 Insertion c.6373dupA 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 6601dupA
Exon 11 Deletion c.6373delA 5 - Definitely pathogenic >0.99 Hakansson (1997) Am J Hum Genet 60; 1068
BIC nucleic acid #: 6601delA
Exon 11 Insertion c.6390dupT 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6618dupT
Exon 11 Deletion c.6392_6396del5 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 6620_6624del5
Exon 11 Deletion c.6393_6396del4 5 - Definitely pathogenic >0.99 Kwiatkowska (2002) J Med Genet 39; e35
BIC nucleic acid #: 6621_6624del4
Exon 11 Insertion c.6396dupA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6624dupA
Exon 11 Deletion c.6401_6404del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6629_6632del4
Exon 11 Deletion c.6405_6409del5 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 6633_6637del5
Exon 11 Deletion c.6406_6407delTT 5 - Definitely pathogenic >0.99 Awadelkarim (2007) Breast Cancer Res Treat 102; 189
BIC nucleic acid #: 6634_6634delTT
Exon 11 Deletion c.6407_6411del5 5 - Definitely pathogenic >0.99 Hakansson (1997) Am J Hum Genet 60; 1068
BIC nucleic acid #: 6635_6639del5
Exon 11 Deletion c.6408_6414del7 5 - Definitely pathogenic >0.99 Tamboom (2010) Hered Cancer Clin Pract 8;
BIC nucleic acid #: 6636_6642del7
Exon 11 Deletion c.6410delA p.Asn2137Metfs*31 5 - Definitely pathogenic >0.99 Janavicius (2014) CG 207, 195
BIC nucleic acid #: 6638delA
Exon 11 Deletion c.6419delG 5 - Definitely pathogenic >0.99 Guan (2015) FAM CAN 14, 9
BIC nucleic acid #: 6647delG
Exon 11 Insertion c.6420_6421insA 5 - Definitely pathogenic >0.99 Jacobi (2007) Genet Med 9; 173
BIC nucleic acid #: 6648_6649insA
Exon 11 Insertion c.6422dupG 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 6650dupG
Exon 11 Deletion c.6428delC 5 - Definitely pathogenic >0.99 Yazici (2000) Br J Cancer 83; 737
BIC nucleic acid #: 6656delC
Exon 11 Nonsense c.6428C>A p.S2143* 5 - Definitely pathogenic >0.99 Guaoua (2014) AHS 14, 468
BIC nucleic acid #: 6656C>A
Exon 11 Deletion c.6434delA 5 - Definitely pathogenic >0.99 Martin (2001) J Clin Oncol 19; 2247
BIC nucleic acid #: 6662delA
Exon 11 Deletion c.6434_6441del8 5 - Definitely pathogenic >0.99 Litton (2012) Cancer 118; 321
BIC nucleic acid #: 6662_6669del8
Exon 11 Deletion c.6437_6440del4 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 6665_6668del4
Exon 11 Deletion c.6443_6444delCT 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 6671_6672delCT
Exon 11 Deletion c.6444_6447del4 5 - Definitely pathogenic >0.99 Sermijn (2004) J Med Genet 41; e23
BIC nucleic acid #: 6672_6675del4
Exon 11 Insertion c.6444dupT 5 - Definitely pathogenic >0.99 Hahn (2003) J Natl Cancer Inst 95; 214
BIC nucleic acid #: 6672dupT
Exon 11 Deletion c.6444delT 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 6672delT
Exon 11 Deletion c.6445delA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6673delA
Exon 11 Deletion c.6445_6446delAT 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 6673_6674delAT
Exon 11 Deletion c.6446_6450del5 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6674_6678del5
Exon 11 Deletion c.6447_6448delTA 5 - Definitely pathogenic >0.99 Balabas (2010) Fam Cancer 9; 267
BIC nucleic acid #: 6675_6676delTA
Exon 11 Insertion c.6447_6448dupTA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 6675_6676dupTA
Exon 11 Deletion c.6450delA 5 - Definitely pathogenic >0.99 Lin (2016) Oncotarget : [Additional report]
BIC nucleic acid #: 6678delA
Exon 11 Deletion c.6449_6450delAA 5 - Definitely pathogenic >0.99 Foretova (2004) Hum Mutat 23; 397
BIC nucleic acid #: 6677_6678delAA
Exon 11 Insertion c.6450dupA 5 - Definitely pathogenic >0.99 Fries (2002) Mil Med 167; 99
BIC nucleic acid #: 6678dupA
Exon 11 Deletion c.6458delC 5 - Definitely pathogenic >0.99 Torres-Mejia (2015) CEBP 24, 498
BIC nucleic acid #: 6686delC
Exon 11 Deletion c.6468_6469delTC 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 6696_6697delTC
Exon 11 Deletion c.6486_6489del4 5 - Definitely pathogenic >0.99 Edwards (2010) Br J Cancer 103: 918
BIC nucleic acid #: 6714_6717del4
Exon 11 Nonsense c.6490C>T p.Q2164* 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6718C>T
Exon 11 Indel c.6490_6492delCAGins4 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 6718_6720delCAGins4
Exon 11 Deletion c.6491delA 5 - Definitely pathogenic >0.99 Wong (2015) PLOS ONE 10, e0134408
BIC nucleic acid #: 6719delA
Exon 11 Deletion c.6491_6494del4 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6719_6722del4
Exon 11 Deletion c.6491_6495del5 5 - Definitely pathogenic >0.99 Sakayori (2003) J Hum Genet 48; 130
BIC nucleic acid #: 6719_6723del5
Exon 11 Deletion c.6494delT 5 - Definitely pathogenic >0.99 Esteban Cardeñosa (2008) Med Clin (Barc) 130; 121
BIC nucleic acid #: 6722delT
Exon 11 Deletion c.6527delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6755delA
Exon 11 Deletion c.6531_6534del4 5 - Definitely pathogenic >0.99 Litton (2012) Cancer 118; 321
BIC nucleic acid #: 6759_6762del4
Exon 11 Insertion c.6531dupT 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 6759dupT
Exon 11 Insertion c.6535_6536insA 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 6763_6764insA
Exon 11 Nonsense c.6547G>T p.E2183* 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 6775G>T
Exon 11 Deletion c.6553delG 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 6781delG
Exon 11 Nonsense c.6557C>A p.S2186* 5 - Definitely pathogenic >0.99 Jacobi (2007) Genet Med 9; 173
BIC nucleic acid #: 6785C>A
Exon 11 Deletion c.6575_6588del14 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 6803_6816del14
Exon 11 Insertion c.6580dupA p.Ile2194Asnfs*3 5 - Definitely pathogenic >0.99 Janavicius (2014) CG 207, 195
BIC nucleic acid #: 6808dupA
Exon 11 Deletion c.6589delA 5 - Definitely pathogenic >0.99 Konecny (2010) Breast Cancer Res Treat 119; 233
BIC nucleic acid #: 6817delA
Exon 11 Deletion c.6591_6592delTG 5 - Definitely pathogenic >0.99 Wooster (1995) Nature 378; 789
BIC nucleic acid #: 6819_6820delTG
Exon 11 Deletion c.6600_6601delTT p.S2201* 5 - Definitely pathogenic >0.99 Haffty (2009) Ann Oncol 20; 1653
BIC nucleic acid #: 6828_6829delTT
Exon 11 Deletion c.6601delT 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 6829delT
Exon 11 Deletion c.6603_6604delTG 5 - Definitely pathogenic >0.99 Claes (1999) Hum Mutat 13; 256
BIC nucleic acid #: 6831_6832delTG
Exon 11 Deletion c.6611delC 5 - Definitely pathogenic >0.99 Pal (2013) Breast J 19; 189
BIC nucleic acid #: 6839delC
Exon 11 Deletion c.6611delC 5 - Definitely pathogenic >0.99 Pal (2013) BREAST J 19, 189
BIC nucleic acid #: 6839delC
Exon 11 Deletion c.6626_6627delTA 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 6854_6855delTA
Exon 11 Deletion c.6627_6634del8 5 - Definitely pathogenic >0.99 Laitman (2011) Breast Cancer Res Treat 127; 489
BIC nucleic acid #: 6855_6862del8
Exon 11 Deletion c.6629_6630delAA 5 - Definitely pathogenic >0.99 Diez (1999) Med Clin (Barc) 112; 179
BIC nucleic acid #: 6857_6858delAA
Exon 11 Deletion c.6634_6637del4 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 6862_6865del4
Exon 11 Deletion c.6638delC 5 - Definitely pathogenic >0.99 Machackova (2001) Hum Mutat 18; 545
BIC nucleic acid #: 6866delC
Exon 11 Insertion c.6641dupC 5 - Definitely pathogenic >0.99 Levanat (2012) Gene 498; 169
BIC nucleic acid #: 6869dupC
Exon 11 Deletion c.6643delT 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6871delT
Exon 11 Deletion c.6644_6647del4 5 - Definitely pathogenic >0.99 Serova-Sinilnikova (1997) Am J Hum Genet 60; 1236
BIC nucleic acid #: 6872_6875del4
Exon 11 Insertion c.6644dupA 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 6872dupA
Exon 11 Deletion c.6645delC 5 - Definitely pathogenic >0.99 Nelson-Moseke (2013) FAM CAN 12, 83
BIC nucleic acid #: 6873delC
Exon 11 Deletion c.6645delC 5 - Definitely pathogenic >0.99 Nelson-Moseke (2013) Fam Cancer 12; 83
BIC nucleic acid #: 6873delC
Exon 11 Insertion c.6652dupG 5 - Definitely pathogenic >0.99 Ozdag (2000) Eur J Cancer 36; 2076
BIC nucleic acid #: 6880dupG
Exon 11 Nonsense c.6656C>G p.S2219* 5 - Definitely pathogenic >0.99 Duran (2003) Hum Mutat 21; 448
BIC nucleic acid #: 6884C>G
Exon 11 Deletion c.6658_6662del5 5 - Definitely pathogenic >0.99 Grzybowska (2000) Hum Mutat 16; 482
BIC nucleic acid #: 6886_6890del5
Exon 11 Deletion c.6673delA 5 - Definitely pathogenic >0.99 Toh (2008) PLoS One 3; e2024
BIC nucleic acid #: 6901delA
Exon 11 Insertion c.6682dupG 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6910dupG
Exon 11 Deletion c.6684delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6912delA
Exon 11 Deletion c.6688delA 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 6916delA
Exon 11 Nonsense c.6715G>T p.E2239* 5 - Definitely pathogenic >0.99 Thirthagiri (2008) Breast Cancer Res 10; R59
BIC nucleic acid #: 6943G>T
Exon 11 Insertion c.6722_6723dupCA 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 6950_6951dupCA
Exon 11 Deletion c.6724_6725delGA 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 6952_6953delGA
Exon 11 Nonsense c.6730A>T p.K2244* 5 - Definitely pathogenic >0.99 Bayraktar (2012) Cancer 118; 1515
BIC nucleic acid #: 6958A>T
Exon 11 Deletion c.6732delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 6960delA
Exon 11 Deletion c.6743_6755del13 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 6971_6983del13
Exon 11 Missense c.6748A>G p.T2250A 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 #: 6976A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.01047
  • Pathology:
  • Sum Family: 0.05012
  • Co-occurrence: 1.94984
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.6753_6754delTT 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 6981_6982delTT
Exon 11 Insertion c.6754dupT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 6982dupT
Exon 11 Deletion c.6757_6758delCT 5 - Definitely pathogenic >0.99 Schorge (2001) Gynecol Oncol 83; 383
BIC nucleic acid #: 6985_6986delCT
Exon 11 Nonsense c.6800C>A p.S2267* 5 - Definitely pathogenic >0.99 Zhang (2012) Breast Cancer Res Treat 132; 421
BIC nucleic acid #: 7028C>A
Exon 11 Deletion c.6814delA 5 - Definitely pathogenic >0.99 Novakovic (2012) Int J Oncol epub; epub
BIC nucleic acid #: 7042delA
Exon 11 Deletion c.6816_6817delAA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 7044_7045delAA
Exon 11 Missense c.6821G>T p.G2274V 2 - Likely not pathogenic or of little clinical significance 0.0117 Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 7049G>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.215
  • Pathology: 1.2
  • Sum Family:
  • Co-occurrence: 2.249
  • Functional assay:
  • Products of LRs:
Exon 11 Deletion c.6833_6837del5 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 7061_7065del5
Intron 11 Deletion c.6841+1delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 7069+1delG
Exon 12 Missense c.6853A>G p.I2285V 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 #: 7081A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 3.24E-06
  • Co-occurrence: 0.00389
  • Functional assay:
  • Products of LRs:
Exon 12 Deletion c.6859_6863del5 5 - Definitely pathogenic >0.99 Edwards (2003) Am J Hum Genet 72; 1
BIC nucleic acid #: 7087_7091del5
Exon 12 Insertion c.6896dupA 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 7124dupA
Exon 12 Insertion c.6948_6949insTT 5 - Definitely pathogenic >0.99 De Leeneer (2012) Breast Cancer Res Treat 132; 87
BIC nucleic acid #: 7176_7177insTT
Intron 12 Splice Site c.6937+594T>G 5 - Definitely pathogenic >0.99 Anczuk›w (2012) Clin Cancer Res 18; 4903
BIC nucleic acid #: 7165+594T>G
Intron 12 Deletion c.6937+2delT 5 - Definitely pathogenic >0.99 S/NI Consortium (2003) Br J Cancer 88; 1256
BIC nucleic acid #: 7165+2delT
Exon 13 Deletion c.6941delC 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 7169delC
Exon 13 Deletion c.6944_6947del4 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 7172_7175del4
Exon 13 Nonsense c.6952C>T p.R2318* 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 7180C>T
Exon 13 Missense c.6953G>A p.R2318Q 2 - Likely not pathogenic or of little clinical significance 0.00265 Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 7181G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 0.1264
  • Pathology:
  • Sum Family:
  • Co-occurrence: 1.0294
  • Functional assay:
  • Products of LRs:
Exon 13 Deletion c.6959delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 7187delT
Exon 13 Deletion c.6996delT 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol epub; epub
BIC nucleic acid #: 7224delT
Exon 13 Insertion c.6999_7000insT 5 - Definitely pathogenic >0.99 Janavicius (2014) CG 207, 195
BIC nucleic acid #: 7227_7228insT
Exon 13 Deletion c.7003_7007del5 5 - Definitely pathogenic >0.99 Wooster (1995) Nature 378; 789
BIC nucleic acid #: 7231_7235del5
Exon 13 Splice Site c.7007G>A 5 - Definitely pathogenic >0.99 Howlett (2002) Science 297; 606 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 7235G>A
Exon 13 Splice Site c.7007G>C 5 - Definitely pathogenic >0.99 Serova-Sinilnikova (1997) Am J Hum Genet 60; 1236 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 7235G>C
Exon 13 Splice Site c.7007G>T 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 7235G>T
Exon 13 Insertion c.7032dupA 5 - Definitely pathogenic >0.99 Robson (2002) J Med Genet 39; 126
BIC nucleic acid #: 7260dupA
Exon 13 Insertion c.7082_7100dup19 5 - Definitely pathogenic >0.99 van der Looij (2000) Hum Mutat 15; 480
BIC nucleic acid #: 7310_7328dup19
Exon 13 Insertion c.7110dupA 5 - Definitely pathogenic >0.99 Solano (2012) SpringerPlus 1;
BIC nucleic acid #: 7338dupA
Exon 13 Insertion c.7156dupT 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 7384dupT
Exon 13 Insertion c.7177dupA 5 - Definitely pathogenic >0.99 de Juan (2009) Breast Cancer Res Treat 115; 405
BIC nucleic acid #: 7405dupA
Exon 13 Insertion c.7187dupT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 7415dupT
Exon 13 Insertion c.7234_7235insG 5 - Definitely pathogenic >0.99 Tazzite (2012) Gynecol Oncol 125; 687
BIC nucleic acid #: 7462_7465insG
Exon 13 Insertion c.7409dupT 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 7637dupT
Intron 13 Splice Site c.7007+1G>C 5 - Definitely pathogenic >0.99 Whiley (2011) Hum Mutat 32; 678 Lindor (2012) Hum Mutat 33: 8 [Additional report]
BIC nucleic acid #: 7235+1G>C
Intron 13 Splice Site c.7007+1G>T 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 7235+1G>T
Intron 13 Splice Site c.7008-2A>G 5 - Definitely pathogenic >0.99 Bonatti (2006) Cancer Genet Cytogenet 170; 93
BIC nucleic acid #: 7236-2A>G
Intron 13 Splice Site c.7008-2A>T 5 - Definitely pathogenic >0.99 Pensabene (2009) Ann Oncol 20; 874 Colombo (2013) PLoS One 8: e57173 [Functional characterisation]
BIC nucleic acid #: 7236-2A>T
Intron 13 Splice Site c.7008-1G>T 5 - Definitely pathogenic >0.99 Kang (2015) Breast Cancer Res Treat 151, 157
BIC nucleic acid #: 7236-1G>T
Exon 14 Deletion c.7025_7026delAA 5 - Definitely pathogenic >0.99 Friedman (1997) Am J Hum Genet 60; 313
BIC nucleic acid #: 7253_7254delAA
Exon 14 Deletion c.7047delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 7275delT
Exon 14 Missense c.7052C>G p.A2351G 2 - Likely not pathogenic or of little clinical significance 0.0274 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 7280C>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation:
  • Pathology: 0.892
  • Sum Family: 1.55
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
Exon 14 Nonsense c.7060C>T p.Q2354* 5 - Definitely pathogenic >0.99 Duran (2003) Hum Mutat 21; 448
BIC nucleic acid #: 7288C>T
Exon 14 Deletion c.7067_7068delTT 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 7295_7296delTT
Exon 14 Deletion c.7069_7070delCT 5 - Definitely pathogenic >0.99 Garvin (1997) J Med Genet 34; 990
BIC nucleic acid #: 7297_7298delCT
Exon 14 Deletion c.7092delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 7320delA
Exon 14 Deletion c.7109_7110delAA 5 - Definitely pathogenic >0.99 Osorio (1997) Cancer Lett 121; 115
BIC nucleic acid #: 7337_7338delAA
Exon 14 Deletion c.7110delA 5 - Definitely pathogenic >0.99 Tazzite (2012) Gynecol Oncol 125; 687
BIC nucleic acid #: 7338delA
Exon 14 Nonsense c.7115C>G p.S2372* 5 - Definitely pathogenic >0.99 Furukawa (2015) SCI REP 5, 8829
BIC nucleic acid #: 7343C>G
Exon 14 Nonsense c.7133C>G p.S2378* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 7361C>G
Exon 14 Deletion c.7142delC 5 - Definitely pathogenic >0.99 Yang (2015) PLOS ONE 10,
BIC nucleic acid #: 7370delC
Exon 14 Missense c.7150C>A p.Q2384K 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 #: 7378C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.01
  • Combined: 0.02
Observational data
  • Segregation: 1.8197
  • Pathology:
  • Sum Family: 0.01995
  • Co-occurrence: 0.00045
  • Functional assay:
  • Products of LRs:
Exon 14 Deletion c.7151_7152delAA 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 7379_7380delAA
Exon 14 Deletion c.7166delG 5 - Definitely pathogenic >0.99 Evans (2008) Fam Cancer 7; 113
BIC nucleic acid #: 7394delG
Exon 14 Nonsense c.7180A>T p.R2394* 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 7408A>T
Exon 14 Deletion c.7183delC 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 7411delC
Exon 14 Deletion c.7208_7211del4 5 - Definitely pathogenic >0.99 Machado (2007) J Clin Oncol 25; 2027
BIC nucleic acid #: 7436_7439del4
Exon 14 Indel c.7209_7212del4insGG 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 7437_7440del4insGG
Exon 14 Indel c.7210_7216del7insTG 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 7438_7444del7insTG
Exon 14 Deletion c.7224_7227del4 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 7452_7455del4
Exon 14 Insertion c.7235_7236insG 5 - Definitely pathogenic >0.99 Cherbal (2012) BD 34, 1
BIC nucleic acid #: 7463_7464insG
Exon 14 Deletion c.7251_7252delCA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 7479_7480delCA
Exon 14 Missense c.7252A>G p.R2418G 2 - Likely not pathogenic or of little clinical significance 0.0339 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 7480A>G
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.01
  • Combined: 0.03
Observational data
  • Segregation:
  • Pathology: 0.732
  • Sum Family: 1.55
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
Exon 14 Deletion c.7254_7255delAG 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 7482_7483delAG
Exon 14 Nonsense c.7258G>T p.E2420* 5 - Definitely pathogenic >0.99 Jang (2012) J Hum Genet 57; 212
BIC nucleic acid #: 7486G>T
Exon 14 Nonsense c.7261C>T p.Q2421* 5 - Definitely pathogenic >0.99 Kiechle (2000) Hum Mutat 16; 529
BIC nucleic acid #: 7489C>T
Exon 14 Nonsense c.7266T>A p.C2422* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 7494T>A
Exon 14 Deletion c.7283delT 5 - Definitely pathogenic >0.99 Dobričić (2013) JHG 58, 501
BIC nucleic acid #: 7511delT
Exon 14 Deletion c.7283delT 5 - Definitely pathogenic >0.99 Dobričić (2013) J Hum Genet 58; 501
BIC nucleic acid #: 7511delT
Exon 14 Nonsense c.7303C>T p.Q2435* 5 - Definitely pathogenic >0.99 Stegel (2011) BMC Med Genet 12; 9
BIC nucleic acid #: 7531C>T
Exon 14 Missense c.7307A>T p.N2436I 1 - Not pathogenic or of no clinical significance 0.00023 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 7535A>T
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.01
  • Combined: 0.03
Observational data
  • Segregation: 0.38905
  • Pathology:
  • Sum Family: 0.40738
  • Co-occurrence: 0.04786
  • Functional assay:
  • Products of LRs:
Exon 14 Deletion c.7307delA 5 - Definitely pathogenic >0.99 Lowery (2011) Oncologist 16; 1397
BIC nucleic acid #: 7535delA
Exon 14 Deletion c.7309delA 5 - Definitely pathogenic >0.99 Coppa (2014) BCRT 148, 629
BIC nucleic acid #: 7537delA
Exon 14 Deletion c.7316delG 5 - Definitely pathogenic >0.99 Berzina (2013) BMC Med Genet 14;
BIC nucleic acid #: 7544delG
Exon 14 Deletion c.7322delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 7550delG
Exon 14 Deletion c.7360delA 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 7588delA
Exon 14 Deletion c.7363delC 5 - Definitely pathogenic >0.99 Konstantopoulou (2014) CLIN GENET 85, 36
BIC nucleic acid #: 7591delC
Exon 14 Nonsense c.7375A>T p.K2459* 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 7603A>T
Exon 14 Deletion c.7379delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 7607delA
Exon 14 Deletion c.7379_7382del4 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 7607_7610del4
Exon 14 Insertion c.7409dupT 5 - Definitely pathogenic >0.99 Lin (2016) Oncotarget : [Additional report]
BIC nucleic acid #: 7637dupT
Exon 14 Deletion c.7408_7409delTT 5 - Definitely pathogenic >0.99 Gutiérrez-Enríquez (2011) Breast Cancer Res Treat 127; 611
BIC nucleic acid #: 7636_7637delTT
Exon 14 Missense c.7415A>C p.K2472T 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 #: 7643A>C
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.01
  • Combined: 0.03
Observational data
  • Segregation: 0.00001
  • Pathology: 0.5
  • Sum Family:
  • Co-occurrence: 1.0512
  • Functional assay:
  • Products of LRs:
Exon 14 Deletion c.7419_7420delTG 5 - Definitely pathogenic >0.99 Piek (2003) Fam Cancer 2; 73
BIC nucleic acid #: 7647_7648delTG
Intron 14 Splice Site c.7436-2A>T 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 7664-2A>T
Intron 14 Splice Site c.7436-2A>G 5 - Definitely pathogenic >0.99 Houdayer (2012) Hum Mutat 33, 1228
BIC nucleic acid #: 7664-2A>G
Exon 15 Deletion c.7436-2_7437del4 5 - Definitely pathogenic >0.99 van Harssel (2010) Fam Cancer 9; 193
BIC nucleic acid #: 7664-2_7665del4
Exon 15 Nonsense c.7453C>T p.Q2485* 5 - Definitely pathogenic >0.99 Schrader (2012) Obstet Gynecol 120; 235
BIC nucleic acid #: 7681C>T
Exon 15 Insertion c.7464_7465insTA 5 - Definitely pathogenic >0.99 Howlett (2002) Science 297; 606
BIC nucleic acid #: 7692_7693insTA
Exon 15 Insertion c.7467dupT 5 - Definitely pathogenic >0.99 Kwong (2009) Breast Cancer Res Treat 117; 683
BIC nucleic acid #: 7695dupT
Exon 15 Nonsense c.7471C>T p.Q2491* 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140 more
BIC nucleic acid #: 7699C>T
Exon 15 Nonsense c.7480C>T p.R2494* 5 - Definitely pathogenic >0.99 Vehmanen (1997) Hum Mol Genet 6; 2309 more
BIC nucleic acid #: 7708C>T
Exon 15 Nonsense c.7495C>T p.Q2499* 5 - Definitely pathogenic >0.99 Maier (2014) PROSTATE 74, 1444
BIC nucleic acid #: 7723C>T
Exon 15 Nonsense c.7501C>T p.Q2501* 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 7729C>T
Exon 15 Missense c.7505G>A p.R2502H 3 - Uncertain 0.1200 Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 7733G>A
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.01
  • Combined: 0.03
Observational data
  • Segregation:
  • Pathology: 2.13
  • Sum Family: 2.07
  • Co-occurrence:
  • Functional assay:
  • Products of LRs:
Exon 15 Insertion c.7525_7526insT 5 - Definitely pathogenic >0.99 Pisanò (2011) Fam Cancer 10; 65
BIC nucleic acid #: 7753_7754insT
Exon 15 Deletion c.7538delC 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 7766delC
Exon 15 Insertion c.7543dupA 5 - Definitely pathogenic >0.99 Edwards (2003) Am J Hum Genet 72; 1
BIC nucleic acid #: 7771dupA
Exon 15 Missense c.7544C>T p.T2515I 1 - Not pathogenic or of no clinical significance 0.00006 Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 7772C>T
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.01
  • Combined: 0.03
Observational data
  • Segregation: 0.932
  • Pathology: 1.2
  • Sum Family:
  • Co-occurrence: 1.86E-03
  • Functional assay:
  • Products of LRs:
Exon 15 Deletion c.7544delC 5 - Definitely pathogenic >0.99 Michils (2012) J Mol Diagn 14; 623
BIC nucleic acid #: 7772delC
Exon 15 Nonsense c.7558C>T p.R2520* 5 - Definitely pathogenic >0.99 Hakansson (1997) Am J Hum Genet 60; 1068
BIC nucleic acid #: 7786C>T
Exon 15 Deletion c.7567_7568delCT 5 - Definitely pathogenic >0.99 Gao (2000) Hum Genet 107; 186
BIC nucleic acid #: 7795_7796delCT
Exon 15 Nonsense c.7612A>T p.K2538* 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 7840A>T
Intron 15 Splice Site c.7617+1G>A 5 - Definitely pathogenic >0.99 Bergthorsson (2001) J Med Genet 38; 361 Gutiérrez-Enr­quez (2009) Breast Cancer Res Treat 117: 461 [Functional characterisation]
BIC nucleic acid #: 7845+1G>A
Intron 15 Splice Site c.7617+1G>T 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 7845+1G>T
Intron 15 Splice Site c.7617+2T>G 5 - Definitely pathogenic >0.99 Vreeswijk (2009) Hum Mutat 30; 107
BIC nucleic acid #: 7845+2T>G
Intron 15 Splice Site c.7618-1G>A 5 - Definitely pathogenic >0.99 Whiley (2011) Hum Mutat 32; 678 Lindor (2012) Hum Mutat 33: 8 [Additional report]
BIC nucleic acid #: 7846-1G>A
Intron 15 Splice Site c.7618-2A>G 5 - Definitely pathogenic >0.99 Drüsedau (2013) Eur J Hum Genet 21, 1361
BIC nucleic acid #: 7846-2A>G
Exon 16 Deletion c.7631delG 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 7859delG
Exon 16 Deletion c.7636_7645del10 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 7864_7873del10
Exon 16 Deletion c.7655_7658del4 5 - Definitely pathogenic >0.99 Zhi (2002) Hum Mutat 20; 474
BIC nucleic acid #: 7883_7886del4
Exon 16 Insertion c.7667dupA 5 - Definitely pathogenic >0.99 Willems (2008) Clin Cancer Res 14; 2953
BIC nucleic acid #: 7895dupA
Exon 16 Deletion c.7671delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 7899delA
Exon 16 Deletion c.7673_7674delAG 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 7901_7902delAG
Exon 16 Insertion c.7675_7676ins4 5 - Definitely pathogenic >0.99 Ahmad (2012) Clin Genet 82; 594
BIC nucleic acid #: 7903_7904ins4
Exon 16 Deletion c.7679_7680delTT 5 - Definitely pathogenic >0.99 Ganguly (1998) Hum Genet 102; 549
BIC nucleic acid #: 7907_7908delTT
Exon 16 Deletion c.7680delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 7908delT
Exon 16 Insertion c.7680dupT 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 7908dupT
Exon 16 Insertion c.7681_7682insT 5 - Definitely pathogenic >0.99 Serova-Sinilnikova (1997) Am J Hum Genet 60; 1236
BIC nucleic acid #: 7909_7910insT
Exon 16 Insertion c.7697dupA 5 - Definitely pathogenic >0.99 Chan (2012) J Mol Diagn 14; 602
BIC nucleic acid #: 7925dupA
Exon 16 Deletion c.7707delT 5 - Definitely pathogenic >0.99 Ottini (2009) Breast Cancer Res Treat 116; 577
BIC nucleic acid #: 7935delT
Exon 16 Indel c.7734_7739del6ins9 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 7962_7967del6ins9
Exon 16 Nonsense c.7738C>T p.Q2580* 5 - Definitely pathogenic >0.99 Musolino (2005) Breast Cancer Res Treat 91; 203
BIC nucleic acid #: 7966C>T
Exon 16 Deletion c.7751delG 5 - Definitely pathogenic >0.99 Csokay (1999) Cancer Res 59; 995
BIC nucleic acid #: 7979delG
Exon 16 Nonsense c.7757G>A p.W2586* 5 - Definitely pathogenic >0.99 Perkowska (2003) Hum Mutat 21; 553
BIC nucleic acid #: 7985G>A
Exon 16 Nonsense c.7758G>A p.W2586* 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 7986G>A
Exon 16 Deletion c.7761delC 5 - Definitely pathogenic >0.99 Couch (1996) Nat Genet 13; 123
BIC nucleic acid #: 7989delC
Exon 16 Deletion c.7762delA 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 7990delA
Exon 16 Insertion c.7762_7766dup5 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 7990_7994dup5
Exon 16 Indel c.7762_7764delATAinsTT 5 - Definitely pathogenic >0.99 Evans (2003) J Med Genet 40; e107
BIC nucleic acid #: 7990_7992delATAinsTT
Exon 16 Splice Site c.7805G>C 5 - Definitely pathogenic >0.99 Bonnet (2008) J Med Genet 45; 438 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 8033G>C
Intron 16 Splice Site c.7806-9T>G 5 - Definitely pathogenic >0.99 Kwong (2008) Fam Cancer 7; 125
BIC nucleic acid #: 8034-9T>G
Intron 16 Splice Site c.7806-2A>G 5 - Definitely pathogenic >0.99 Santarosa (1999) Int J Cancer 83; 5 Houdayer (2012) Hum Mutat 33; 1228
BIC nucleic acid #: 8034-2A>G
Intron 16 Splice Site c.7806-1G>T 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 8034-1G>T
Intron 16 Splice Site c.7806-2A>T 5 - Definitely pathogenic >0.99 Konstantopoulou (2014) Clin Genet 85, 36
BIC nucleic acid #: 8034-2A>T
Exon 17 Insertion c.7806_7807insAG 5 - Definitely pathogenic >0.99 Ramus (1997) Am J Hum Genet 60; 1242
BIC nucleic acid #: 8034_8035insAG
Exon 17 Insertion c.7816_7819dup4 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 8044_8047dup4
Exon 17 Deletion c.7846delT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 8074delT
Exon 17 Nonsense c.7856G>A p.W2619* 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 8084G>A
Exon 17 Nonsense c.7863T>A p.Y2621* 5 - Definitely pathogenic >0.99 Esteban Cardeñosa (2008) Breast Cancer Res Treat 112; 69
BIC nucleic acid #: 8091T>A
Exon 17 Deletion c.7872_7873delTA 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 8100_8101delTA
Exon 17 Nonsense c.7878G>A p.W2626* 5 - Definitely pathogenic >0.99