BRCA2 Database

  • BRCA2: NM_000059.3 was used as reference sequence. cDNA number 1 is the “A” of the start codon, and the number of the last base is used for deletions within repetitive bases. For legacy nomenclature (BIC nucleic acid #), mouse over comments icon.
  • Posterior Probability of “>0.99” indicates that the score was not calculated but estimated based on literature findings only.
  • Only variants with well-documented case histories and/or with clear functional data are included
  • Click any Column Header to sort the display. Mouse over Comments icon for additional details
  • “Live Search” any term in the search box, such as “nonsense”, “exon 1”, etc
  • If you cannot find a variant in this database, use the in silico prediction tool
  • The classifications used in this BRCA database are: 1 (not pathogenic or of no clinical significance); 2 (likely not pathogenic or of little clinical significance); 3 (uncertain); 4 (likely pathogenic); and 5 (definitely pathogenic). See further description of classifications.

variants found

( *Independent Observations )
Location  ▾ Mutation Type Nucleotide Change Protein Change Classification Posterior Probability Reference Secondary Reference Comments
Intron 1 Splice Site c.-39-1G>A 5 - Definitely pathogenic >0.99 Davy (2017) Eur J Hum Genet 25:1147
BIC nucleic acid #: 189-1G>A
chr13:32890558:+ chr13:32316421:+
Exon 2 Deletion c.-39-1_-39delGA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 189-1_189delGA
chr13:32890558-32890559 (+) chr13:32316421-32316422 (+)
Exon 2 Start Loss c.2T>A p.? 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 230T>A
chr13:32890599:+ chr13:32316462:+
Exon 2 Start Loss c.2T>C p.? 5 - Definitely pathogenic >0.99 Jakubowska (2003) EJHG 11, 955
BIC nucleic acid #: 230T>C
chr13:32890599:+ chr13:32316462:+
Exon 2 Start Loss c.2T>G p.? 5 - Definitely pathogenic >0.99 Santos (2014) JMD 16, 324
BIC nucleic acid #: 230T>G
chr13:32890599:+ chr13:32316462:+
Exon 2 Missense c.3G>A p.M1I 4 - Likely pathogenic 0.981 Thomassen M et al., Breast Cancer Res Treat 132: 1009-1023, 2012 Vallee MP et al., Hum Mutat, 37: 627-639, 2016
BIC nucleic acid #: 231G>A
PRIOR
  • Position & Align-GVGD: 0.96
  • Splicing: 0.02
  • Combined: 0.96
Observational data
  • Segregation: 2
  • Pathology:
  • Sum Family:
  • Co-occurrence: 1.07
  • Functional assay:
  • Products of LRs: 2.14
chr13:32890600:+ chr13:32316463:+
Exon 2 Deletion c.5delC 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 233delC
chr13:32890602 (+) chr13:32316465 (+)
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
chr13:32890607:+ chr13:32316470:+
Exon 2 Deletion c.22_23delAG 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 250_251delAG
chr13:32890619-32890620 (+) chr13:32316482-32316483 (+)
Exon 2 Deletion c.26delC 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 254delC
chr13:32890623 (+) chr13:32316486 (+)
Exon 2 Insertion c.36dupT 5 - Definitely pathogenic >0.99 Vaziri (2000) Hum Mutat 17; 74
BIC nucleic acid #: 264dupT
chr13:32890633-32890634 (+) chr13:32316496-32316497 (+)
Exon 2 Deletion c.37_44del8 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 265_272del8
chr13:32890634-32890641 (+) chr13:32316497-32316504 (+)
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
chr13:32890648-32890649 (+) chr13:32316511-32316512 (+)
Exon 2 Insertion c.51dupA 5 - Definitely pathogenic >0.99 Diez (2010) Breast Cancer Res Treat 121; 221
BIC nucleic acid #: 279dupA
chr13:32890648-32890649 (+) chr13:32316511-32316512 (+)
Exon 2 Deletion c.52_61del10 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 280_289del10
chr13:32890649-32890658 (+) chr13:32316512-32316521 (+)
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:
chr13:32890650:+ chr13:32316513:+
Exon 2 Nonsense c.57C>A p.C19* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 285C>A
chr13:32890654:+ chr13:32316517:+
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
chr13:32890665:+ chr13:32316528:+
Intron 2 Splice Site c.67+1G>C 5 - Definitely pathogenic >0.99 Zhong (2016) PLoS One 11:e0156789
BIC nucleic acid #: 295+1G>C
chr13:32890665:+ chr13:32316528:+
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
chr13:32890665:+ chr13:32316528:+
Intron 2 Deletion c.67+2delT 5 - Definitely pathogenic >0.99 Yablonski-Peretz (2016) BCRT 155, 133
BIC nucleic acid #: 295+2delT
chr13:32890666 (+) chr13:32316529 (+)
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
chr13:32890666:+ chr13:32316529:+
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
chr13:32890666:+ chr13:32316529:+
Exon 3 Deletion c.71delT 5 - Definitely pathogenic >0.99 Serova-Sinilnikova (1997) Am J Hum Genet 60; 1236
BIC nucleic acid #: 299delT
chr13:32893217 (+) chr13:32319080 (+)
Exon 3 Nonsense c.71T>A p.L24* 5 - Definitely pathogenic >0.99 Muller (2011) BMC Med Genet 12;
BIC nucleic acid #: 299T>A
chr13:32893217:+ chr13:32319080:+
Exon 3 Nonsense c.71T>G p.L24* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 299T>G
chr13:32893217:+ chr13:32319080:+
Exon 3 Deletion c.86_87delTT 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 314_315delTT
chr13:32893232-32893233 (+) chr13:32319095-32319096 (+)
Exon 3 Nonsense c.92G>A p.W31* 5 - Definitely pathogenic >0.99 Schrader (2012) Obstet Gynecol 120; 235
BIC nucleic acid #: 320G>A
chr13:32893238:+ chr13:32319101:+
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
chr13:32893239:+ chr13:32319102:+
Exon 3 Nonsense c.97G>T p.E33* 5 - Definitely pathogenic >0.99 Capalbo (2006) Ann Oncol 17S7; vii34
BIC nucleic acid #: 325G>T
chr13:32893243:+ chr13:32319106:+
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
chr13:32893246:+ chr13:32319109:+
Exon 3 Nonsense c.110C>G p.S37* 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 338C>G
chr13:32893256:+ chr13:32319119:+
Exon 3 Deletion c.115delG 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 343delG
chr13:32893261 (+) chr13:32319124 (+)
Exon 3 Missense c.125A>G p.Y42C 1 - Not pathogenic or of no clinical significance 0 Goldgar et al., AJHG 75: 535-544, 2004. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32893271:+ chr13:32319134:+
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
chr13:32893279:+ chr13:32319142:+
Exon 3 Nonsense c.145G>T p.E49* 5 - Definitely pathogenic >0.99 Bergthorsson (2001) J Med Genet 38; 361 Sanz (2010) Clin Cancer Res 16: 1957 [Functional characterisation]
BIC nucleic acid #: 373G>T
chr13:32893291:+ chr13:32319154:+
Exon 3 Deletion c.151delG 5 - Definitely pathogenic >0.99 Tai (2007) J Natl Cancer Inst 99; 1811
BIC nucleic acid #: 379delG
chr13:32893297 (+) chr13:32319160 (+)
Exon 3 Deletion c.161delA 5 - Definitely pathogenic >0.99 Zhong (2016) PLOS ONE 11, e0156789
BIC nucleic acid #: 389delA
chr13:32893307 (+) chr13:32319170 (+)
Exon 3 Deletion c.162_165del4 5 - Definitely pathogenic >0.99 Couch (2007) Cancer Epidemiol Biomarkers Prev 16; 342
BIC nucleic acid #: 390_393del4
chr13:32893308-32893311 (+) chr13:32319171-32319174 (+)
Exon 3 Missense c.167A>C p.N56T 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32893313:+ chr13:32319176:+
Exon 3 Insertion c.170dupA 5 - Definitely pathogenic >0.99 Kiechle (2000) Hum Mutat 16; 529
BIC nucleic acid #: 398dupA
chr13:32893316-32893317 (+) chr13:32319179-32319180 (+)
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
chr13:32893317:+ chr13:32319180:+
Exon 3 Nonsense c.172G>T p.E58* 5 - Definitely pathogenic >0.99 Muller (2011) BMC Med Genet 12;
BIC nucleic acid #: 400G>T
chr13:32893318:+ chr13:32319181:+
Exon 3 Deletion c.176delC 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 404delC
chr13:32893322 (+) chr13:32319185 (+)
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
chr13:32893342:+ chr13:32319205:+
Exon 3 Deletion c.204delA 5 - Definitely pathogenic >0.99 Santarosa (1999) Int J Cancer 83; 5
BIC nucleic acid #: 432delA
chr13:32893350 (+) chr13:32319213 (+)
Exon 3 Indel c.215delAinsTT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 443delAinsTT
chr13:32893361 (+) chr13:32319224 (+)
Exon 3 Missense c.223G>C p.A75P 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32893369:+ chr13:32319232:+
Exon 3 Deletion c.239_243del5 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 467_471del5
chr13:32893385-32893389 (+) chr13:32319248-32319252 (+)
Exon 3 Nonsense c.244A>T p.K82* 5 - Definitely pathogenic >0.99 Muller (2011) BMC Med Genet 12;
BIC nucleic acid #: 472A>T
chr13:32893390:+ chr13:32319253:+
Exon 3 Insertion c.246dupA 5 - Definitely pathogenic >0.99 Capalbo (2006) Ann Oncol 17S7; vii34
BIC nucleic acid #: 474dupA
chr13:32893392-32893393 (+) chr13:32319255-32319256 (+)
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
chr13:32893396:+ chr13:32319259:+
Exon 3 Deletion c.262_263delCT 5 - Definitely pathogenic >0.99 Gorski (2004) Int J Cancer 110; 683
BIC nucleic acid #: 490_491delCT
chr13:32893408-32893409 (+) chr13:32319271-32319272 (+)
Exon 3 Deletion c.267_268delGC 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 495_496delGC
chr13:32893413-32893414 (+) chr13:32319276-32319277 (+)
Exon 3 Deletion c.271_272delTA 5 - Definitely pathogenic >0.99 Maxwell (2017) NAT COMM 8, 319
BIC nucleic acid #: 499_500delTA
chr13:32893417-32893418 (+) chr13:32319280-32319281 (+)
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
chr13:32893419:+ chr13:32319282:+
Exon 3 Nonsense c.273C>G p.Y91* 5 - Definitely pathogenic >0.99 Muller (2011) BMC Med Genet 12;
BIC nucleic acid #: 501C>G
chr13:32893419:+ chr13:32319282:+
Exon 3 Deletion c.273_285del13 5 - Definitely pathogenic >0.99 Akbari (2008) Oncogene 27; 1290
BIC nucleic acid #: 501_513del13
chr13:32893419-32893431 (+) chr13:32319282-32319294 (+)
Exon 3 Nonsense c.274C>T p.Q92* 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 502C>T
chr13:32893420:+ chr13:32319283:+
Exon 3 Insertion c.276dupA 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 504dupA
chr13:32893422-32893423 (+) chr13:32319285-32319286 (+)
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
chr13:32893435:+ chr13:32319298:+
Exon 3 Insertion c.306dupA 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 534dupA
chr13:32893452-32893453 (+) chr13:32319315-32319316 (+)
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
chr13:32893460:+ chr13:32319323:+
Intron 3 Splice Site c.316+2T>C 5 - Definitely pathogenic >0.99 LaDuca (2017) PLoS One 12:
BIC nucleic acid #: 544+2T>C
chr13:32893464:+ chr13:32319327:+
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
chr13:32893467:+ chr13:32319330:+
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
chr13:32893467:+ chr13:32319330:+
Exon 4 Deletion c.345_346delAA 5 - Definitely pathogenic >0.99 Zugazagoitia (2014) BCRT 148, 415
BIC nucleic acid #: 573_574delAA
chr13:32899241-32899242 (+) chr13:32325104-32325105 (+)
Exon 4 Deletion c.364delA 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 592delA
chr13:32899260 (+) chr13:32325123 (+)
Exon 4 Deletion c.370delA 5 - Definitely pathogenic >0.99 Esteban Carde±osa (2010) Breast Cancer Res Treat 121; 257
BIC nucleic acid #: 598delA
chr13:32899266 (+) chr13:32325129 (+)
Exon 4 Deletion c.379delG 5 - Definitely pathogenic >0.99 Cunningham (2014) SCI REP 4, 4026
BIC nucleic acid #: 607delG
chr13:32899275 (+) chr13:32325138 (+)
Exon 4 Deletion c.391delT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 619delT
chr13:32899287 (+) chr13:32325150 (+)
Exon 4 Nonsense c.396T>A p.C132* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 624T>A
chr13:32899292:+ chr13:32325155:+
Exon 4 Deletion c.407delA 5 - Definitely pathogenic >0.99 Mutter (2017) J PATH 242, 165
BIC nucleic acid #: 635delA
chr13:32899303 (+) chr13:32325166 (+)
Exon 4 Deletion c.410delC 5 - Definitely pathogenic >0.99 Claus (2005) JAMA 293; 964
BIC nucleic acid #: 638delC
chr13:32899306 (+) chr13:32325169 (+)
Exon 4 Nonsense c.414T>A p.C138* 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 642T>A
chr13:32899310:+ chr13:32325173:+
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
chr13:32899321:+ chr13:32325184:+
Intron 4 Splice Site c.425+1G>A 5 - Definitely pathogenic >0.99 LaDuca (2017) PLoS One 12:
BIC nucleic acid #: 653+1G>A
chr13:32899322:+ chr13:32325185:+
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
chr13:32900236:+ chr13:32326099:+
Exon 5 Insertion c.428dupC 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 656dupC
chr13:32900240-32900241 (+) chr13:32326103-32326104 (+)
Exon 5 Deletion c.429delT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 657delT
chr13:32900241 (+) chr13:32326104 (+)
Exon 5 Deletion c.438delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 666delA
chr13:32900250 (+) chr13:32326113 (+)
Exon 5 Nonsense c.439C>T p.Q147* 5 - Definitely pathogenic >0.99 Infante (2006) J Hum Genet 51; 611 Sanz (2010) Clin Cancer Res 16: 1957 [Functional characterisation]
BIC nucleic acid #: 667C>T
chr13:32900251:+ chr13:32326114:+
Exon 5 Insertion c.443dupG 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 671dupG
chr13:32900255-32900256 (+) chr13:32326118-32326119 (+)
Exon 5 Deletion c.462_463delAA 5 - Definitely pathogenic >0.99 Ligtenberg (1999) Br J Cancer 79; 1475
BIC nucleic acid #: 690_691delAA
chr13:32900274-32900275 (+) chr13:32326137-32326138 (+)
Exon 5 Deletion c.464_468del5 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 692_696del5
chr13:32900276-32900280 (+) chr13:32326139-32326143 (+)
Exon 5 Deletion c.466_467delGA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 694_695delGA
chr13:32900278-32900279 (+) chr13:32326141-32326142 (+)
Exon 5 Insertion c.466_467insT 5 - Definitely pathogenic >0.99 Tereschenko (2002) Hum Mutat 19; 184
BIC nucleic acid #: 694_695insT
chr13:32900278-32900279 (+) chr13:32326141-32326142 (+)
Exon 5 Deletion c.469_470delAA 5 - Definitely pathogenic >0.99 Adem (2003) Cancer 97; 1
BIC nucleic acid #: 697_698delAA
chr13:32900281-32900282 (+) chr13:32326144-32326145 (+)
Exon 5 Deletion c.470_474del5 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 698_702del5
chr13:32900282-32900286 (+) chr13:32326145-32326149 (+)
Exon 5 Nonsense c.473C>G p.S158* 5 - Definitely pathogenic >0.99 Moran (2017) BCRT 161, 135
BIC nucleic acid #: 701C>G
chr13:32900285:+ chr13:32326148:+
Exon 5 Splice Site c.475G>A 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 703G>A
chr13:32900287:+ chr13:32326150:+
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
chr13:32900288:+ chr13:32326151:+
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
chr13:32900288:+ chr13:32326151:+
Intron 5 Splice Site c.475+3A>G 5 - Definitely pathogenic >0.99 Wagner (1999) Hum Mol Genet 8; 413 Davy (2017) Eur J Hum Genet 25:1147
BIC nucleic acid #: 703+3A>G
chr13:32900290:+ chr13:32326153:+
Intron 5 Deletion c.475+4delT 5 - Definitely pathogenic >0.99 Kluska (2015) BMC MGEN 8, 19
BIC nucleic acid #: 703+4delT
chr13:32900291 (+) chr13:32326154 (+)
Intron 5 Indel c.476-4_476-1del4insT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 704-4_704-1delCCAGinsT
chr13:32900375-32900378 (+) chr13:32326238-32326241 (+)
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
chr13:32900377:+ chr13:32326240:+
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
chr13:32900378:+ chr13:32326241:+
Exon 6 Deletion c.486delG 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 714delG
chr13:32900389 (+) chr13:32326252 (+)
Exon 6 Deletion c.488_489delGT 5 - Definitely pathogenic >0.99 Muller (2011) BMC Med Genet 12;
BIC nucleic acid #: 716_717delGT
chr13:32900391-32900392 (+) chr13:32326254-32326255 (+)
Exon 6 Insertion c.489_490insG 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 717_718insG
chr13:32900392-32900393 (+) chr13:32326255-32326256 (+)
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:
chr13:32900405:+ chr13:32326268:+
Exon 6 Deletion c.506delA 5 - Definitely pathogenic >0.99 Meisel (2017) ARCH GOB ,
BIC nucleic acid #: 734delA
chr13:32900409 (+) chr13:32326272 (+)
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
chr13:32900419:+ chr13:32326282:+
Exon 6 Insertion c.516_516+1insC 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 744_744+1insC
chr13:32900419-32900420 (+) chr13:32326282-32326283 (+)
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
chr13:32900420:+ chr13:32326283:+
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
chr13:32900420:+ chr13:32326283:+
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
chr13:32900420:+ chr13:32326283:+
Intron 6 Insertion c.516+1dupG 5 - Definitely pathogenic >0.99 Jakubowska (2003) Eur J Hum Genet 11; 955
BIC nucleic acid #: 744+1dupG
chr13:32900420-32900421 (+) chr13:32326283-32326284 (+)
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
chr13:32900421:+ chr13:32326284:+
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
chr13:32900421:+ chr13:32326284:+
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
chr13:32900634:+ chr13:32326497:+
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
chr13:32900635:+ chr13:32326498:+
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
chr13:32900635:+ chr13:32326498:+
Exon 7 Splice Site c.517G>T 5 - Definitely pathogenic >0.99 Gaildrat (2012) J Med Genet 49; 609
BIC nucleic acid #: 745G>T
chr13:32900636:+ chr13:32326499:+
Exon 7 Deletion c.518delG 5 - Definitely pathogenic >0.99 Di Giacomo (2013) HUM MUT 34, 1547
BIC nucleic acid #: 746delG
chr13:32900637 (+) chr13:32326500 (+)
Exon 7 Deletion c.538_539delAT 5 - Definitely pathogenic >0.99 Di Giacomo (2013) HUM MUT 34, 1547
BIC nucleic acid #: 766_767delAT
chr13:32900657-32900658 (+) chr13:32326520-32326521 (+)
Exon 7 Insertion c.538_539dupAT 5 - Definitely pathogenic >0.99 Evans (2001) Fam Cancer 1; 131
BIC nucleic acid #: 766_767dupAT
chr13:32900658-32900659 (+) chr13:32326521-32326522 (+)
Exon 7 Indel c.572delAinsCT 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 800delAinsCT
chr13:32900691 (+) chr13:32326554 (+)
Exon 7 Deletion c.574_575delAT 5 - Definitely pathogenic >0.99 Evans (2003) J Med Genet 40; e107
BIC nucleic acid #: 802_803delAT
chr13:32900693-32900694 (+) chr13:32326556-32326557 (+)
Exon 7 Insertion c.574dupA 5 - Definitely pathogenic >0.99 Ottini (2009) Breast Cancer Res Treat 116; 577
BIC nucleic acid #: 802dupA
chr13:32900693-32900694 (+) chr13:32326556-32326557 (+)
Exon 7 Nonsense c.581G>A p.W194* 5 - Definitely pathogenic >0.99 Couch (1996) Nat Genet 13; 123
BIC nucleic acid #: 809G>A
chr13:32900700:+ chr13:32326563:+
Exon 7 Nonsense c.582G>A p.W194* 5 - Definitely pathogenic >0.99 Drusedau (2013) EJHG 21, 1361
BIC nucleic acid #: 810G>A
chr13:32900701:+ chr13:32326564:+
Exon 7 Deletion c.583delT 5 - Definitely pathogenic >0.99 Roed Nielsen (2016) ACTA ONCOL 55, 38
BIC nucleic acid #: 811delT
chr13:32900702 (+) chr13:32326565 (+)
Exon 7 Nonsense c.584C>G p.S195* 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 812C>G
chr13:32900703:+ chr13:32326566:+
Exon 7 Indel c.593_596del4insAGG p.L198* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 821_824delTAGCinsAGG
chr13:32900712-32900715 (+) chr13:32326575-32326578 (+)
Exon 7 Insertion c.595_599dup5 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 823_827dup5
chr13:32900718-32900719 (+) chr13:32326581-32326582 (+)
Exon 7 Deletion c.610delC 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 838delC
chr13:32900729 (+) chr13:32326592 (+)
Exon 7 Deletion c.613_614delAG 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 841_842delAG
chr13:32900732-32900733 (+) chr13:32326595-32326596 (+)
Exon 7 Insertion c.610_613dup4 5 - Definitely pathogenic >0.99 Csokay (1999) Cancer Res 59; 995
BIC nucleic acid #: 838_841dup4
chr13:32900732-32900733 (+) chr13:32326595-32326596 (+)
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
chr13:32900750:+ chr13:32326613:+
Exon 7 Splice Site c.631G>C 5 - Definitely pathogenic >0.99 Di Giacomo (2013) Hum Mutat 34, 1547 Lin (2016) Oncotarget : [Additional report]
BIC nucleic acid #: 859G>C
chr13:32900750:+ chr13:32326613:+
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
chr13:32900751:+ chr13:32326614:+
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
chr13:32900752:+ chr13:32326615:+
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
chr13:32900752:+ chr13:32326615:+
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
chr13:32903577:+ chr13:32329440:+
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
chr13:32903578:+ chr13:32329441:+
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
chr13:32903579:+ chr13:32329442:+
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
chr13:32903579:+ chr13:32329442:+
Exon 8 Deletion c.635_636delGA 5 - Definitely pathogenic >0.99 Verhoog (1999) J Clin Oncol 17; 3396
BIC nucleic acid #: 863_864delGA
chr13:32903583-32903584 (+) chr13:32329446-32329447 (+)
Exon 8 Deletion c.646delG 5 - Definitely pathogenic >0.99 Berzina (2013) BMC Med Genet 14;
BIC nucleic acid #: 874delG
chr13:32903594 (+) chr13:32329457 (+)
Exon 8 Deletion c.657delT 5 - Definitely pathogenic >0.99 Yang (2017) BCRT 165, 687
BIC nucleic acid #: 885delT
chr13:32903605 (+) chr13:32329468 (+)
Exon 8 Deletion c.658_659delGT 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 886_887delGT
chr13:32903606-32903607 (+) chr13:32329469-32329470 (+)
Exon 8 Deletion c.662_663delTT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 890_891delTT
chr13:32903610-32903611 (+) chr13:32329473-32329474 (+)
Exon 8 Insertion c.670_673dup4 5 - Definitely pathogenic >0.99 Susswein (2016) GENET MED 18, 823
BIC nucleic acid #: 898_901dup4
chr13:32903621-32903622 (+) chr13:32329484-32329485 (+)
Exon 8 Deletion c.673_676del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 901_904del4
chr13:32903621-32903624 (+) chr13:32329484-32329487 (+)
Exon 8 Deletion c.674delC 5 - Definitely pathogenic >0.99 El Saghir (2015) ONC 20, 357
BIC nucleic acid #: 902delC
chr13:32903622 (+) chr13:32329485 (+)
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
chr13:32905054:+ chr13:32330917:+
Intron 8 Splice Site c.682-2A>G 5 - Definitely pathogenic >0.99 de Garibay (2014) Hum Mutat 35, 53 de Juan (2015) Fam Cancer 14: 505 [Additional phenotype]
BIC nucleic acid #: 910-2A>G
chr13:32905054:+ chr13:32330917:+
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
chr13:32905055:+ chr13:32330918:+
Exon 9 Deletion c.700delT 5 - Definitely pathogenic >0.99 Nedelcu (2002) Eur J Hum Genet 10; 150
BIC nucleic acid #: 928delT
chr13:32905074 (+) chr13:32330937 (+)
Exon 9 Deletion c.702delC 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 930delC
chr13:32905076 (+) chr13:32330939 (+)
Exon 9 Insertion c.715dupA 5 - Definitely pathogenic >0.99 Maillet (2006) Cancer Genet Cytogenet 169; 62
BIC nucleic acid #: 943dupA
chr13:32905089-32905090 (+) chr13:32330952-32330953 (+)
Exon 9 Deletion c.729_732del4 5 - Definitely pathogenic >0.99 Weitzel (2005) Cancer Epidemiol Biomarkers Prev 14; 1666
BIC nucleic acid #: 957_960del4
chr13:32905103-32905106 (+) chr13:32330966-32330969 (+)
Exon 9 Deletion c.736_755del20 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 964_983del20
chr13:32905110-32905129 (+) chr13:32330973-32330992 (+)
Exon 9 Deletion c.748delG 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 976delG
chr13:32905122 (+) chr13:32330985 (+)
Exon 9 Deletion c.755delA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 983delA
chr13:32905129 (+) chr13:32330992 (+)
Exon 9 Deletion c.755_758del4 5 - Definitely pathogenic >0.99 Tavtigian (1996) Nat Genet 12; 333
BIC nucleic acid #: 983_986del4
chr13:32905129-32905132 (+) chr13:32330992-32330995 (+)
Exon 9 Deletion c.756_757delCA 5 - Definitely pathogenic >0.99 Haffty (2009) Ann Oncol 20; 1653
BIC nucleic acid #: 984_985delCA
chr13:32905130-32905131 (+) chr13:32330993-32330994 (+)
Exon 9 Deletion c.767delC 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 995delC
chr13:32905141 (+) chr13:32331004 (+)
Exon 9 Deletion c.767_768delCA 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 995_996delCA
chr13:32905141-32905142 (+) chr13:32331004-32331005 (+)
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
chr13:32905145-32905149 (+) chr13:32331008-32331012 (+)
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
chr13:32905146:+ chr13:32331009:+
Exon 9 Deletion c.774_775delAA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 1002_1003delAA
chr13:32905148-32905149 (+) chr13:32331011-32331012 (+)
Exon 9 Deletion c.775delA 5 - Definitely pathogenic >0.99 Palli (2004) Eur J Cancer 40; 2474
BIC nucleic acid #: 1003delA
chr13:32905149 (+) chr13:32331012 (+)
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
chr13:32905149:+ chr13:32331012:+
Exon 9 Deletion c.778_779delGA 5 - Definitely pathogenic >0.99 Phelan (1996) Nat Genet 13; 120
BIC nucleic acid #: 1006_1007delGA
chr13:32905152-32905153 (+) chr13:32331015-32331016 (+)
Intron 9 Deletion c.793+1delG 5 - Definitely pathogenic >0.99 Solano (2012) SpringerPlus 1;
BIC nucleic acid #: 1021+1delG
chr13:32905168 (+) chr13:32331031 (+)
Exon 10 Nonsense c.818C>A p.S273* 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 1046C>A
chr13:32906433:+ chr13:32332296:+
Exon 10 Deletion c.826_830del5 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 1054_1058del5
chr13:32906441-32906445 (+) chr13:32332304-32332308 (+)
Exon 10 Deletion c.846_847delCA 5 - Definitely pathogenic >0.99 Yurgelun (2015) GASTROENT 149, 604
BIC nucleic acid #: 1074_1075delCA
chr13:32906461-32906462 (+) chr13:32332324-32332325 (+)
Exon 10 Nonsense c.880G>T p.E294* 5 - Definitely pathogenic >0.99 Yang (2011) JAMA 306; 1557
BIC nucleic acid #: 1108G>T
chr13:32906495:+ chr13:32332358:+
Exon 10 Indel c.891_899del9ins10 5 - Definitely pathogenic >0.99 Susswein (2016) GENET MED 18, 823
BIC nucleic acid #: 1119_1127del9ins10
chr13:32906506-32906514 (+) chr13:32332369-32332377 (+)
Exon 10 Indel c.893_899del7ins8 5 - Definitely pathogenic >0.99 Moran (2017) BCRT 161, 135
BIC nucleic acid #: 1121_1127del7ins8
chr13:32906508-32906514 (+) chr13:32332371-32332377 (+)
Exon 10 Insertion c.897_898insC 5 - Definitely pathogenic >0.99 Takahashi (1996) Cancer Res 56; 2738
BIC nucleic acid #: 1125_1126insC
chr13:32906512-32906513 (+) chr13:32332375-32332376 (+)
Exon 10 Insertion c.898_899dupGT 5 - Definitely pathogenic >0.99 Akbari (2014) CLIN GENET 85, 64
BIC nucleic acid #: 1126_1127dupGT
chr13:32906514-32906515 (+) chr13:32332377-32332378 (+)
Exon 10 Insertion c.901dupG 5 - Definitely pathogenic >0.99 Couch (1996) Nat Genet 13; 123
BIC nucleic acid #: 1129dupG
chr13:32906516-32906517 (+) chr13:32332379-32332380 (+)
Exon 10 Insertion c.904dupA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 1132dupA
chr13:32906519-32906520 (+) chr13:32332382-32332383 (+)
Exon 10 Deletion c.906delC 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 1134delC
chr13:32906521 (+) chr13:32332384 (+)
Exon 10 Deletion c.917_920del4 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 1145_1148del4
chr13:32906532-32906535 (+) chr13:32332395-32332398 (+)
Exon 10 Insertion c.918dupT 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 1146dupT
chr13:32906533-32906534 (+) chr13:32332396-32332397 (+)
Exon 10 Insertion c.925dupT 5 - Definitely pathogenic >0.99 Sonnenblick (2011) Cancer Biol Ther 12; 165
BIC nucleic acid #: 1153dupT
chr13:32906540-32906541 (+) chr13:32332403-32332404 (+)
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
chr13:32906545-32906546 (+) chr13:32332408-32332409 (+)
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
chr13:32906567:+ chr13:32332430:+
Exon 10 Deletion c.956delA 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 1184delA
chr13:32906571 (+) chr13:32332434 (+)
Exon 10 Missense c.956A>C p.N319T 1 - Not pathogenic or of no clinical significance 0.0004 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:
chr13:32906571:+ chr13:32332434:+
Exon 10 Insertion c.956dupA 5 - Definitely pathogenic >0.99 Ozcelik (2003) J Med Genet 40; e91
BIC nucleic acid #: 1184dupA
chr13:32906571-32906572 (+) chr13:32332434-32332435 (+)
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
chr13:32906576:+ chr13:32332439:+
Exon 10 Deletion c.968_971del4 5 - Definitely pathogenic >0.99 Trujillano (2015) JMD 17, 162
BIC nucleic acid #: 1196_1199del4
chr13:32906583-32906586 (+) chr13:32332446-32332449 (+)
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:
chr13:32906593:+ chr13:32332456:+
Exon 10 Deletion c.994delA 5 - Definitely pathogenic >0.99 Turner (1999) J Clin Oncol 17; 3017
BIC nucleic acid #: 1222delA
chr13:32906609 (+) chr13:32332472 (+)
Exon 10 Insertion c.993_994dupAA 5 - Definitely pathogenic >0.99 Zhang (2012) Breast Cancer Res Treat 132; 421
BIC nucleic acid #: 1221_1222dupAA
chr13:32906609-32906610 (+) chr13:32332472-32332473 (+)
Exon 10 Insertion c.994dupA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1222dupA
chr13:32906609-32906610 (+) chr13:32332472-32332473 (+)
Exon 10 Deletion c.1020delA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 1248delA
chr13:32906635 (+) chr13:32332498 (+)
Exon 10 Nonsense c.1024G>T p.E342* 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 1252G>T
chr13:32906639:+ chr13:32332502:+
Exon 10 Deletion c.1029delA 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 1257delA
chr13:32906644 (+) chr13:32332507 (+)
Exon 10 Insertion c.1053dupA 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 1281dupA
chr13:32906668-32906669 (+) chr13:32332531-32332532 (+)
Exon 10 Insertion c.1054dupT 5 - Definitely pathogenic >0.99 Maxwell (2017) NAT COMM 8, 319
BIC nucleic acid #: 1282dupT
chr13:32906669-32906670 (+) chr13:32332532-32332533 (+)
Exon 10 Deletion c.1082delA 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 1310delA
chr13:32906697 (+) chr13:32332560 (+)
Exon 10 Deletion c.1082_1085del4 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol 121; 353
BIC nucleic acid #: 1310_1313del4
chr13:32906697-32906700 (+) chr13:32332560-32332563 (+)
Exon 10 Insertion c.1085_1086insCA 5 - Definitely pathogenic >0.99 Merdad (2015) BMCGENO 16S1,
BIC nucleic acid #: 1313_1314insCA
chr13:32906700-32906701 (+) chr13:32332563-32332564 (+)
Exon 10 Insertion c.1097dupT 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 1325dupT
chr13:32906712-32906713 (+) chr13:32332575-32332576 (+)
Exon 10 Nonsense c.1103C>A p.S368* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 1331C>A
chr13:32906718:+ chr13:32332581:+
Exon 10 Nonsense c.1103C>G p.S368* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 1331C>G
chr13:32906718:+ chr13:32332581:+
Exon 10 Missense c.1114A>C p.N372H 1 - Not pathogenic or of no clinical significance 0 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:
chr13:32906729:+ chr13:32332592:+
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
chr13:32906732:+ chr13:32332595:+
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:
chr13:32906738:+ chr13:32332601:+
Exon 10 Deletion c.1128delT 5 - Definitely pathogenic >0.99 de Juan (2009) Breast Cancer Res Treat 115; 405
BIC nucleic acid #: 1356delT
chr13:32906743 (+) chr13:32332606 (+)
Exon 10 Deletion c.1138delA 5 - Definitely pathogenic >0.99 Alemar (2016) CG 209, 417
BIC nucleic acid #: 1366delA
chr13:32906753 (+) chr13:32332616 (+)
Exon 10 Deletion c.1147delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 1375delA
chr13:32906762 (+) chr13:32332625 (+)
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:
chr13:32906766:+ chr13:32332629:+
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
chr13:32906768:+ chr13:32332631:+
Exon 10 Deletion c.1176_1180del5 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 1404_1408del5
chr13:32906791-32906795 (+) chr13:32332654-32332658 (+)
Exon 10 Nonsense c.1180G>T p.E394* 5 - Definitely pathogenic >0.99 Balabas (2010) Fam Cancer 9; 267
BIC nucleic acid #: 1408G>T
chr13:32906795:+ chr13:32332658:+
Exon 10 Nonsense c.1184G>A p.W395* 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 1412G>A
chr13:32906799:+ chr13:32332662:+
Exon 10 Insertion c.1189_1190ins4 5 - Definitely pathogenic >0.99 Smith (2012) Proc Biol Sci 279; 1389
Lalloo (2006) Eur J Cancer 42; 1143
BIC nucleic acid #: 1417_1418ins4
chr13:32906804-32906805 (+) chr13:32332667-32332668 (+)
Exon 10 Deletion c.1205delG 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 1433delG
chr13:32906820 (+) chr13:32332683 (+)
Exon 10 Deletion c.1225delG 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 1453delG
chr13:32906840 (+) chr13:32332703 (+)
Exon 10 Deletion c.1231delA 5 - Definitely pathogenic >0.99 Kote-Jarai (2011) Br J Cancer 105; 1230
BIC nucleic acid #: 1459delA
chr13:32906846 (+) chr13:32332709 (+)
Exon 10 Indel c.1231_1241del11ins4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1459_1469del11ins4
chr13:32906846-32906856 (+) chr13:32332709-32332719 (+)
Exon 10 Indel c.1232_1240del9insCA 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 1460_1468del9insCA
chr13:32906847-32906855 (+) chr13:32332710-32332718 (+)
Exon 10 Insertion c.1233dupA 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 1461dupA
chr13:32906848-32906849 (+) chr13:32332711-32332712 (+)
Exon 10 Deletion c.1238delT 5 - Definitely pathogenic >0.99 Capalbo (2006) Ann Oncol 17S7; vii34
BIC nucleic acid #: 1466delT
chr13:32906853 (+) chr13:32332716 (+)
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
chr13:32906856:+ chr13:32332719:+
Exon 10 Deletion c.1257delT 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 1485delT
chr13:32906872 (+) chr13:32332735 (+)
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
chr13:32906876:+ chr13:32332739:+
Exon 10 Deletion c.1265delA 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 1493delA
chr13:32906880 (+) chr13:32332743 (+)
Exon 10 Deletion c.1278delA 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 1506delA
chr13:32906893 (+) chr13:32332756 (+)
Exon 10 Deletion c.1294delG 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 1522delG
chr13:32906909 (+) chr13:32332772 (+)
Exon 10 Deletion c.1296_1297delGA 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 1524_1525delGA
chr13:32906911-32906912 (+) chr13:32332774-32332775 (+)
Exon 10 Insertion c.1298dupA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 1526dupA
chr13:32906913-32906914 (+) chr13:32332776-32332777 (+)
Exon 10 Deletion c.1300_1303del4 5 - Definitely pathogenic >0.99 Tereschenko (2002) Hum Mutat 19; 184
BIC nucleic acid #: 1528_1531del4
chr13:32906915-32906918 (+) chr13:32332778-32332781 (+)
Exon 10 Indel c.1306_1315del10ins6 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 1534_1543del10ins6
chr13:32906921-32906930 (+) chr13:32332784-32332793 (+)
Exon 10 Deletion c.1308_1309delGA 5 - Definitely pathogenic >0.99 Donenberg (2016) BCRT 159, 131
BIC nucleic acid #: 1536_1537delGA
chr13:32906923-32906924 (+) chr13:32332786-32332787 (+)
Exon 10 Deletion c.1310_1311delAA 5 - Definitely pathogenic >0.99 Machado (2007) J Clin Oncol 25; 2027
BIC nucleic acid #: 1538_1539delAA
chr13:32906925-32906926 (+) chr13:32332788-32332789 (+)
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
chr13:32906925-32906928 (+) chr13:32332788-32332791 (+)
Exon 10 Deletion c.1317delT 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 1545delT
chr13:32906932 (+) chr13:32332795 (+)
Exon 10 Insertion c.1318_1319dupCT 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 1546_1547dupCT
chr13:32906934-32906935 (+) chr13:32332797-32332798 (+)
Exon 10 Insertion c.1321dupA 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 1549dupA
chr13:32906936-32906937 (+) chr13:32332799-32332800 (+)
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
chr13:32906936-32906939 (+) chr13:32332799-32332802 (+)
Exon 10 Nonsense c.1325C>A p.S442* 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 1553C>A
chr13:32906940:+ chr13:32332803:+
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
chr13:32906942:+ chr13:32332805:+
Exon 10 Deletion c.1335_1338del4 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 1563_1566del4
chr13:32906950-32906953 (+) chr13:32332813-32332816 (+)
Exon 10 Missense c.1354C>A p.L452I 1 - Not pathogenic or of no clinical significance 0.001 Whiley PJ, et al., PLoS One, 9:e86836, 2014 Tavtigian SV et al., Hum Mutat, 29(11):1342-1354, 2008
BIC nucleic acid #: 1582C>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.03
  • Pathology:
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Products of LRs: 0.03
chr13:32906969:+ chr13:32332832:+
Exon 10 Deletion c.1362delA 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 1590delA
chr13:32906977 (+) chr13:32332840 (+)
Exon 10 Deletion c.1364delC 5 - Definitely pathogenic >0.99 Couch (2015) JCO 33, 304
BIC nucleic acid #: 1592delC
chr13:32906979 (+) chr13:32332842 (+)
Exon 10 Deletion c.1368_1369delGA 5 - Definitely pathogenic >0.99 Esteban Carde±osa (2010) Breast Cancer Res Treat 121; 257
BIC nucleic acid #: 1596_1597delGA
chr13:32906983-32906984 (+) chr13:32332846-32332847 (+)
Exon 10 Insertion c.1368_1369dupGA 5 - Definitely pathogenic >0.99 Machado (2007) J Clin Oncol 25; 2027
BIC nucleic acid #: 1596_1597dupGA
chr13:32906984-32906985 (+) chr13:32332847-32332848 (+)
Exon 10 Nonsense c.1384G>T p.E462* 5 - Definitely pathogenic >0.99 Rummel (2017) BCRT ,
BIC nucleic acid #: 1612G>T
chr13:32906999:+ chr13:32332862:+
Exon 10 Missense c.1385A>G p.E462G 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32907000:+ chr13:32332863:+
Exon 10 Deletion c.1389delA 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 1617delA
chr13:32907004 (+) chr13:32332867 (+)
Exon 10 Deletion c.1389_1390delAG 5 - Definitely pathogenic >0.99 Goelen (1999) J Med Genet 36; 304
BIC nucleic acid #: 1617_1618delAG
chr13:32907004-32907005 (+) chr13:32332867-32332868 (+)
Exon 10 Insertion c.1392_1393insT 5 - Definitely pathogenic >0.99 Manguoglu (2010) Cancer Genet Cytogenet 203; 230
BIC nucleic acid #: 1620_1621insT
chr13:32907007-32907008 (+) chr13:32332870-32332871 (+)
Exon 10 Nonsense c.1399A>T p.K467* 5 - Definitely pathogenic >0.99 Kang (2002) Hum Mutat 20; 235
BIC nucleic acid #: 1627A>T
chr13:32907014:+ chr13:32332877:+
Exon 10 Deletion c.1405_1406delGA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 1633_1634delGA
chr13:32907020-32907021 (+) chr13:32332883-32332884 (+)
Exon 10 Insertion c.1408dupG 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 1636dupG
chr13:32907023-32907024 (+) chr13:32332886-32332887 (+)
Exon 10 Nonsense c.1411G>T p.E471* 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 1639G>T
chr13:32907026:+ chr13:32332889:+
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
chr13:32907038:+ chr13:32332901:+
Exon 10 Deletion c.1428_1431del4 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 1656_1659del4
chr13:32907043-32907046 (+) chr13:32332906-32332909 (+)
Exon 10 Deletion c.1444delC 5 - Definitely pathogenic >0.99 Augustyn (2011) Breast Cancer Res Treat epub; epub
BIC nucleic acid #: 1672delC
chr13:32907059 (+) chr13:32332922 (+)
Exon 10 Insertion c.1447dupG 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 1675dupG
chr13:32907062-32907063 (+) chr13:32332925-32332926 (+)
Exon 10 Indel c.1449_1451delAGTins4 5 - Definitely pathogenic >0.99 de Juan (2009) Breast Cancer Res Treat 115; 405
BIC nucleic acid #: 1677_1679delAGTins4
chr13:32907064-32907066 (+) chr13:32332927-32332929 (+)
Exon 10 Insertion c.1448_1451dup4 5 - Definitely pathogenic >0.99 Tedaldi (2017) ONCTARG epub, epub
BIC nucleic acid #: 1676_1679dup4
chr13:32907066-32907067 (+) chr13:32332929-32332930 (+)
Exon 10 Deletion c.1472delC 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 1700delC
chr13:32907087 (+) chr13:32332950 (+)
Exon 10 Deletion c.1496_1497delAG 5 - Definitely pathogenic >0.99 Coppa (2014) BCRT 148, 629
BIC nucleic acid #: 1724_1725delAG
chr13:32907111-32907112 (+) chr13:32332974-32332975 (+)
Exon 10 Deletion c.1499delG 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 1727delG
chr13:32907114 (+) chr13:32332977 (+)
Exon 10 Deletion c.1511_1512delCT 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 1739_1740delCT
chr13:32907126-32907127 (+) chr13:32332989-32332990 (+)
Exon 10 Deletion c.1514delT 5 - Definitely pathogenic >0.99 Jang (2012) J Hum Genet 57; 212
BIC nucleic acid #: 1742delT
chr13:32907129 (+) chr13:32332992 (+)
Exon 10 Missense c.1514T>C p.I505T 2 - Likely not pathogenic or of little clinical significance 0.004 Whiley PJ, et al., PLoS One, 9:e86836, 2014 Tavtigian SV et al., Hum Mutat, 29(11):1342-1354, 2008
BIC nucleic acid #: 1742T>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.16
  • Pathology: 1.2
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Products of LRs: 0.19
chr13:32907129:+ chr13:32332992:+
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
chr13:32907143:+ chr13:32333006:+
Exon 10 Deletion c.1528_1529delGA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 1756_1757delGA
chr13:32907143-32907144 (+) chr13:32333006-32333007 (+)
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:
chr13:32907153:+ chr13:32333016:+
Exon 10 Deletion c.1538_1541del4 5 - Definitely pathogenic >0.99 Ameziane (2008) Hum Mutat 29; 159
BIC nucleic acid #: 1766_1769del4
chr13:32907153-32907156 (+) chr13:32333016-32333019 (+)
Exon 10 Insertion c.1540dupG 5 - Definitely pathogenic >0.99 Santarosa (1999) Int J Cancer 83; 5
BIC nucleic acid #: 1768dupG
chr13:32907155-32907156 (+) chr13:32333018-32333019 (+)
Exon 10 Deletion c.1547delT 5 - Definitely pathogenic >0.99 Choi (2004) J Clin Oncol 22; 1638
BIC nucleic acid #: 1775delT
chr13:32907162 (+) chr13:32333025 (+)
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:
chr13:32907165:+ chr13:32333028:+
Exon 10 Deletion c.1552delG 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 1780delG
chr13:32907167 (+) chr13:32333030 (+)
Exon 10 Deletion c.1572delG 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 1800delG
chr13:32907187 (+) chr13:32333050 (+)
Exon 10 Deletion c.1583delA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 1811delA
chr13:32907198 (+) chr13:32333061 (+)
Exon 10 Insertion c.1593dupA 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 1821dupA
chr13:32907208-32907209 (+) chr13:32333071-32333072 (+)
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
chr13:32907209:+ chr13:32333072:+
Exon 10 Deletion c.1597delA 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 1825delA
chr13:32907212 (+) chr13:32333075 (+)
Exon 10 Deletion c.1599_1600delTG 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 1827_1828delTG
chr13:32907214-32907215 (+) chr13:32333077-32333078 (+)
Exon 10 Insertion c.1608dupT 5 - Definitely pathogenic >0.99 Esteban Carde±osa (2008) Breast Cancer Res Treat 112; 69
BIC nucleic acid #: 1836dupT
chr13:32907223-32907224 (+) chr13:32333086-32333087 (+)
Exon 10 Deletion c.1612_1613delAG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 1840_1841delAG
chr13:32907227-32907228 (+) chr13:32333090-32333091 (+)
Exon 10 Nonsense c.1621G>T p.E541* 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 1849G>T
chr13:32907236:+ chr13:32333099:+
Exon 10 Deletion c.1636delT 5 - Definitely pathogenic >0.99 Noguchi (2000) Hum Mutat 17; 155
BIC nucleic acid #: 1864delT
chr13:32907251 (+) chr13:32333114 (+)
Exon 10 Nonsense c.1642C>T p.Q548* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 1870C>T
chr13:32907257:+ chr13:32333120:+
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
chr13:32907261-32907264 (+) chr13:32333124-32333127 (+)
Exon 10 Deletion c.1654delT 5 - Definitely pathogenic >0.99 Kanaan (2003) Hum Genet 113; 452
BIC nucleic acid #: 1882delT
chr13:32907269 (+) chr13:32333132 (+)
Exon 10 Missense c.1662T>G p.C554W 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32907277:+ chr13:32333140:+
Exon 10 Indel c.1668_1671del4insATT 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 1896_1899del4insATT
chr13:32907283-32907286 (+) chr13:32333146-32333149 (+)
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
chr13:32907285:+ chr13:32333148:+
Exon 10 Deletion c.1670_1683del14 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 1898_1911del14
chr13:32907285-32907298 (+) chr13:32333148-32333161 (+)
Exon 10 Deletion c.1671_1674del4 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 1899_1902del4
chr13:32907286-32907289 (+) chr13:32333149-32333152 (+)
Exon 10 Deletion c.1672delA 5 - Definitely pathogenic >0.99 Ganguly (1998) Hum Genet 102; 549
BIC nucleic acid #: 1900delA
chr13:32907287 (+) chr13:32333150 (+)
Exon 10 Deletion c.1674_1680del7 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 1902_1908del7
chr13:32907289-32907295 (+) chr13:32333152-32333158 (+)
Exon 10 Deletion c.1689delG 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 1917delG
chr13:32907304 (+) chr13:32333167 (+)
Exon 10 Nonsense c.1689G>A p.W563* 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 1917G>A
chr13:32907304:+ chr13:32333167:+
Exon 10 Deletion c.1705delC 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 1933delC
chr13:32907320 (+) chr13:32333183 (+)
Exon 10 Deletion c.1711_1715del5 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 1939_1943del5
chr13:32907326-32907330 (+) chr13:32333189-32333193 (+)
Exon 10 Insertion c.1715dupT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 1943dupT
chr13:32907330-32907331 (+) chr13:32333193-32333194 (+)
Exon 10 Nonsense c.1736T>G p.L579* 5 - Definitely pathogenic >0.99 Holter (2015) JCO 33, 3124
BIC nucleic acid #: 1964T>G
chr13:32907351:+ chr13:32333214:+
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:
chr13:32907359:+ chr13:32333222:+
Exon 10 Deletion c.1748delT 5 - Definitely pathogenic >0.99 Montagna (2002) Int J Cancer 98; 732
BIC nucleic acid #: 1976delT
chr13:32907363 (+) chr13:32333226 (+)
Exon 10 Nonsense c.1748T>A p.L583* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 1976T>A
chr13:32907363:+ chr13:32333226:+
Exon 10 Deletion c.1754delA 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 1982delA
chr13:32907369 (+) chr13:32333232 (+)
Exon 10 Deletion c.1755_1759del5 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 1983_1987del5
chr13:32907370-32907374 (+) chr13:32333233-32333237 (+)
Exon 10 Deletion c.1759_1763del5 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 1987_1991del5
chr13:32907374-32907378 (+) chr13:32333237-32333241 (+)
Exon 10 Missense c.1762A>G p.N588D 2 - Likely not pathogenic or of little clinical significance 0.03 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:
chr13:32907377:+ chr13:32333240:+
Exon 10 Deletion c.1763delA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 1991delA
chr13:32907378 (+) chr13:32333241 (+)
Exon 10 Deletion c.1763_1766del4 5 - Definitely pathogenic >0.99 Kanaan (2003) Hum Genet 113; 452
BIC nucleic acid #: 1991_1994del4
chr13:32907378-32907381 (+) chr13:32333241-32333244 (+)
Exon 10 Deletion c.1765_1766delAA 5 - Definitely pathogenic >0.99 Kanaan (2003) Hum Genet 113; 452
BIC nucleic acid #: 1993_1994delAA
chr13:32907380-32907381 (+) chr13:32333243-32333244 (+)
Exon 10 Deletion c.1773_1776del4 5 - Definitely pathogenic >0.99 Kanaan (2003) Hum Genet 113; 452
BIC nucleic acid #: 2001_2004del4
chr13:32907388-32907391 (+) chr13:32333251-32333254 (+)
Exon 10 Deletion c.1787_1799del13 5 - Definitely pathogenic >0.99 Kote-Jarai (2011) Br J Cancer 105; 1230
BIC nucleic acid #: 2015_2027del13
chr13:32907402-32907414 (+) chr13:32333265-32333277 (+)
Exon 10 Deletion c.1792delA 5 - Definitely pathogenic >0.99 Hernan (2015) CLTO epub, epub
BIC nucleic acid #: 2020delA
chr13:32907407 (+) chr13:32333270 (+)
Exon 10 Deletion c.1796_1800del5 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 2024_2028del5
chr13:32907411-32907415 (+) chr13:32333274-32333278 (+)
Exon 10 Deletion c.1797_1801del5 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2025_2029del5
chr13:32907412-32907416 (+) chr13:32333275-32333279 (+)
Exon 10 Nonsense c.1800T>A p.Y600* 5 - Definitely pathogenic >0.99 Pal (2013) BREAST J 19, 189
BIC nucleic acid #: 2028T>A
chr13:32907415:+ chr13:32333278:+
Exon 10 Insertion c.1803dupA 5 - Definitely pathogenic >0.99 Villarreal-Garza (2015) CANCER 121, 372
BIC nucleic acid #: 2031dupA
chr13:32907418-32907419 (+) chr13:32333281-32333282 (+)
Exon 10 Missense c.1804G>A p.G602R 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32907419:+ chr13:32333282:+
Exon 10 Deletion c.1805delG 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 2033delG
chr13:32907420 (+) chr13:32333283 (+)
Exon 10 Deletion c.1813delA 5 - Definitely pathogenic >0.99 Bergthorsson (2001) J Med Genet 38; 361
BIC nucleic acid #: 2041delA
chr13:32907428 (+) chr13:32333291 (+)
Exon 10 Insertion c.1813_1814insC 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 2041_2042insC
chr13:32907428-32907429 (+) chr13:32333291-32333292 (+)
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
chr13:32907428-32907429 (+) chr13:32333291-32333292 (+)
Exon 10 Insertion c.1815dupA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 2043dupA
chr13:32907430-32907431 (+) chr13:32333293-32333294 (+)
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:
chr13:32907435:+ chr13:32333298:+
Exon 10 Nonsense c.1832C>A p.S611* 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 2060C>A
chr13:32907447:+ chr13:32333310:+
Exon 10 Nonsense c.1832C>G p.S611* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 2060C>G
chr13:32907447:+ chr13:32333310:+
Exon 10 Insertion c.1842dupT 5 - Definitely pathogenic >0.99 Esteban Carde±osa (2010) Breast Cancer Res Treat 121; 257
BIC nucleic acid #: 2070dupT
chr13:32907457-32907458 (+) chr13:32333320-32333321 (+)
Exon 10 Deletion c.1843_1849del7 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 2071_2077del7
chr13:32907458-32907464 (+) chr13:32333321-32333327 (+)
Exon 10 Deletion c.1845_1846delCT 5 - Definitely pathogenic >0.99 Degrolard-Courcet (2014) EJHG 22, 979
BIC nucleic acid #: 2073_2074delCT
chr13:32907460-32907461 (+) chr13:32333323-32333324 (+)
Exon 10 Deletion c.1847_1848delGT 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 2075_2076delGT
chr13:32907462-32907463 (+) chr13:32333325-32333326 (+)
Exon 10 Insertion c.1851dupA 5 - Definitely pathogenic >0.99 Kauff (2002) J Med Genet 39; 611
BIC nucleic acid #: 2079dupA
chr13:32907466-32907467 (+) chr13:32333329-32333330 (+)
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
chr13:32907470:+ chr13:32333333:+
Exon 10 Insertion c.1855dupC 5 - Definitely pathogenic >0.99 Ganguly (1998) Hum Genet 102; 549
BIC nucleic acid #: 2083dupC
chr13:32907470-32907471 (+) chr13:32333333-32333334 (+)
Exon 10 Deletion c.1860delT 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 2088delT
chr13:32907475 (+) chr13:32333338 (+)
Exon 10 Deletion c.1874_1875delTT 5 - Definitely pathogenic >0.99 Cunningham (2014) SCI REP 4, 4026
BIC nucleic acid #: 2102_2103delTT
chr13:32907489-32907490 (+) chr13:32333352-32333353 (+)
Exon 10 Deletion c.1881delA 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 2109delA
chr13:32907496 (+) chr13:32333359 (+)
Exon 10 Deletion c.1887_1893del7 5 - Definitely pathogenic >0.99 Pal (2015) CANCER 121, 4173
BIC nucleic acid #: 2115_2121del7
chr13:32907502-32907508 (+) chr13:32333365-32333371 (+)
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
chr13:32907503-32907504 (+) chr13:32333366-32333367 (+)
Exon 10 Deletion c.1889delC 5 - Definitely pathogenic >0.99 Edwards (2010) Br J Cancer 103; 918
BIC nucleic acid #: 2117delC
chr13:32907504 (+) chr13:32333367 (+)
Exon 10 Missense c.1889C>T p.T630I 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32907504:+ chr13:32333367:+
Exon 10 Deletion c.1893delT 5 - Definitely pathogenic >0.99 Nelson-Moseke (2013) Fam Cancer 12; 83
BIC nucleic acid #: 2121delT
chr13:32907508 (+) chr13:32333371 (+)
Exon 10 Insertion c.1899_1900insTT 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 2127_2128insTT
chr13:32907514-32907515 (+) chr13:32333377-32333378 (+)
Exon 10 Deletion c.1901delC 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 2129delC
chr13:32907516 (+) chr13:32333379 (+)
Exon 10 Deletion c.1906delT 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 2134delT
chr13:32907521 (+) chr13:32333384 (+)
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
chr13:32907525:+ chr13:32333388:+
Exon 11 Deletion c.1929delG 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 2157delG
chr13:32910421 (+) chr13:32336284 (+)
Exon 11 Deletion c.1933delA 5 - Definitely pathogenic >0.99 Ganguly (1998) Hum Genet 102; 549
BIC nucleic acid #: 2161delA
chr13:32910425 (+) chr13:32336288 (+)
Exon 11 Nonsense c.1943C>G p.S648* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 2171C>G
chr13:32910435:+ chr13:32336298:+
Exon 11 Nonsense c.1945C>T p.Q649* 5 - Definitely pathogenic >0.99 Tedaldi (2017) ONCTARG epub, epub
BIC nucleic acid #: 2173C>T
chr13:32910437:+ chr13:32336300:+
Exon 11 Deletion c.1964delC 5 - Definitely pathogenic >0.99 Maistro (2016) BMC C 16,
BIC nucleic acid #: 2192delC
chr13:32910456 (+) chr13:32336319 (+)
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:
chr13:32910456:+ chr13:32336319:+
Exon 11 Deletion c.2004delG 5 - Definitely pathogenic >0.99 Loizidou (2017) CLIN GENET 91, 611
BIC nucleic acid #: 2232delG
chr13:32910496 (+) chr13:32336359 (+)
Exon 11 Deletion c.2012delC 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 2240delC
chr13:32910504 (+) chr13:32336367 (+)
Exon 11 Deletion c.2017_2023del7 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 2245_2251del7
chr13:32910509-32910515 (+) chr13:32336372-32336378 (+)
Exon 11 Deletion c.2025_2026delAT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 2253_2254delAT
chr13:32910517-32910518 (+) chr13:32336380-32336381 (+)
Exon 11 Deletion c.2049_2050delTC 5 - Definitely pathogenic >0.99 Tedaldi (2017) ONCTARG epub, epub
BIC nucleic acid #: 2277_2278delTC
chr13:32910541-32910542 (+) chr13:32336404-32336405 (+)
Exon 11 Deletion c.2053delG 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 2281delG
chr13:32910545 (+) chr13:32336408 (+)
Exon 11 Deletion c.2059_2063del5 5 - Definitely pathogenic >0.99 Zhong (2016) PLOS ONE 11, e0156789
BIC nucleic acid #: 2287_2291del5
chr13:32910551-32910555 (+) chr13:32336414-32336418 (+)
Exon 11 Deletion c.2060_2061delAT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 2288_2289delAT
chr13:32910552-32910553 (+) chr13:32336415-32336416 (+)
Exon 11 Deletion c.2092delC 5 - Definitely pathogenic >0.99 Bonadona (2005) Genes Chromosomes Cancer 43; 404
BIC nucleic acid #: 2320delC
chr13:32910584 (+) chr13:32336447 (+)
Exon 11 Deletion c.2094delA 5 - Definitely pathogenic >0.99 Pritchard (2016) NEJM 375, 443
BIC nucleic acid #: 2322delA
chr13:32910586 (+) chr13:32336449 (+)
Exon 11 Nonsense c.2095C>T p.Q699* 5 - Definitely pathogenic >0.99 Blay (2013) BMC Cancer 13;
BIC nucleic acid #: 2323C>T
chr13:32910587:+ chr13:32336450:+
Exon 11 Deletion c.2103_2106del4 5 - Definitely pathogenic >0.99 Nedelcu (2002) Eur J Hum Genet 10; 150
BIC nucleic acid #: 2331_2334del4
chr13:32910595-32910598 (+) chr13:32336458-32336461 (+)
Exon 11 Insertion c.2130_2131insAA 5 - Definitely pathogenic >0.99 Eoh (2017) CRTRT ,
BIC nucleic acid #: 2358_2359insAA
chr13:32910622-32910623 (+) chr13:32336485-32336486 (+)
Exon 11 Deletion c.2150delG 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 2378delG
chr13:32910642 (+) chr13:32336505 (+)
Exon 11 Insertion c.2175dupA 5 - Definitely pathogenic >0.99 DE Silva (2011) Exp Ther Med 2; 1163
BIC nucleic acid #: 2403dupA
chr13:32910667-32910668 (+) chr13:32336530-32336531 (+)
Exon 11 Deletion c.2176delG 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 2404delG
chr13:32910668 (+) chr13:32336531 (+)
Exon 11 Deletion c.2197delG 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 2425delG
chr13:32910689 (+) chr13:32336552 (+)
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
chr13:32910716:+ chr13:32336579:+
Exon 11 Insertion c.2230dupT 5 - Definitely pathogenic >0.99 Goggins (1996) Cancer Res 56; 5360
BIC nucleic acid #: 2458dupT
chr13:32910722-32910723 (+) chr13:32336585-32336586 (+)
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
chr13:32910723:+ chr13:32336586:+
Exon 11 Insertion c.2253dupT 5 - Definitely pathogenic >0.99 Ganguly (1998) Hum Genet 102; 549
BIC nucleic acid #: 2481dupT
chr13:32910745-32910746 (+) chr13:32336608-32336609 (+)
Exon 11 Deletion c.2254_2257del4 5 - Definitely pathogenic >0.99 El-Harith (2002) Saudi Med J 23; 700
BIC nucleic acid #: 2482_2485del4
chr13:32910746-32910749 (+) chr13:32336609-32336612 (+)
Exon 11 Deletion c.2259delT 5 - Definitely pathogenic >0.99 Seo (2004) Hum Mutat 24; 350
BIC nucleic acid #: 2487delT
chr13:32910751 (+) chr13:32336614 (+)
Exon 11 Nonsense c.2266C>T p.Q756* 5 - Definitely pathogenic >0.99 Carraro (2013) PLoS One 8; e57581
BIC nucleic acid #: 2494C>T
chr13:32910758:+ chr13:32336621:+
Exon 11 Deletion c.2271_2272delAA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 2499_2500delAA
chr13:32910763-32910764 (+) chr13:32336626-32336627 (+)
Exon 11 Deletion c.2275delC 5 - Definitely pathogenic >0.99 Wong (2015) PLOS ONE 10, e0134408
BIC nucleic acid #: 2503delC
chr13:32910767 (+) chr13:32336630 (+)
Exon 11 Deletion c.2278_2279delTT 5 - Definitely pathogenic >0.99 Bayraktar (2012) Cancer 118; 1515
BIC nucleic acid #: 2506_2507delTT
chr13:32910770-32910771 (+) chr13:32336633-32336634 (+)
Exon 11 Deletion c.2287delC 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 2515delC
chr13:32910779 (+) chr13:32336642 (+)
Exon 11 Nonsense c.2312T>G p.L771* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 2540T>G
chr13:32910804:+ chr13:32336667:+
Exon 11 Insertion c.2330dupA 5 - Definitely pathogenic >0.99 Agoff (2002) Am J Surg Pathol 26; 171
BIC nucleic acid #: 2558dupA
chr13:32910822-32910823 (+) chr13:32336685-32336686 (+)
Exon 11 Nonsense c.2339C>G p.S780* 5 - Definitely pathogenic >0.99 Konstantopoulou (2014) CLIN GENET 85, 36
BIC nucleic acid #: 2567C>G
chr13:32910831:+ chr13:32336694:+
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:
chr13:32910842:+ chr13:32336705:+
Exon 11 Nonsense c.2372C>A p.S791* 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 2600C>A
chr13:32910864:+ chr13:32336727:+
Exon 11 Nonsense c.2376C>A p.Y792* 5 - Definitely pathogenic >0.99 Salazar (2006) Cancer Lett 233; 172
BIC nucleic acid #: 2604C>A
chr13:32910868:+ chr13:32336731:+
Exon 11 Deletion c.2402_2412del11 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 2630_2640del11
chr13:32910894-32910904 (+) chr13:32336757-32336767 (+)
Exon 11 Deletion c.2402_2420del19 5 - Definitely pathogenic >0.99 Feliubadaló (2013) Eur J Hum Genet 21; 864
BIC nucleic acid #: 2630_2648del19
chr13:32910894-32910912 (+) chr13:32336757-32336775 (+)
Exon 11 Nonsense c.2409T>G p.Y803* 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol epub; epub
BIC nucleic acid #: 2637T>G
chr13:32910901:+ chr13:32336764:+
Exon 11 Deletion c.2411_2412delAA 5 - Definitely pathogenic >0.99 De Silva (2017) FAM CAN 16, 329
BIC nucleic acid #: 2639_2640delAA
chr13:32910903-32910904 (+) chr13:32336766-32336767 (+)
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:
chr13:32910908:+ chr13:32336771:+
Exon 11 Nonsense c.2426T>G p.L809* 5 - Definitely pathogenic >0.99 Claus (2005) JAMA 293; 964
BIC nucleic acid #: 2654T>G
chr13:32910918:+ chr13:32336781:+
Exon 11 Deletion c.2435delA 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 2663delA
chr13:32910927 (+) chr13:32336790 (+)
Exon 11 Insertion c.2435dupA 5 - Definitely pathogenic >0.99 Ruiz-Flores (2002) Hum Mutat 20; 474
BIC nucleic acid #: 2663dupA
chr13:32910927-32910928 (+) chr13:32336790-32336791 (+)
Exon 11 Deletion c.2437_2444del8 5 - Definitely pathogenic >0.99 Muendlein (2015) JCRCO 141, 2005
BIC nucleic acid #: 2665_2672del8
chr13:32910929-32910936 (+) chr13:32336792-32336799 (+)
Exon 11 Insertion c.2439dupT 5 - Definitely pathogenic >0.99 DE Silva (2011) Exp Ther Med 2; 1163
BIC nucleic acid #: 2667dupT
chr13:32910931-32910932 (+) chr13:32336794-32336795 (+)
Exon 11 Deletion c.2442delC 5 - Definitely pathogenic >0.99 Li (1999) Hum Genet 104; 201
BIC nucleic acid #: 2670delC
chr13:32910934 (+) chr13:32336797 (+)
Exon 11 Deletion c.2446delG 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 2674delG
chr13:32910938 (+) chr13:32336801 (+)
Exon 11 Deletion c.2450delA 5 - Definitely pathogenic >0.99 Bergthorsson (2001) J Med Genet 38; 361
BIC nucleic acid #: 2678delA
chr13:32910942 (+) chr13:32336805 (+)
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
chr13:32910947:+ chr13:32336810:+
Exon 11 Deletion c.2457delA 5 - Definitely pathogenic >0.99 George (2013) Clin Cancer Res 19; 3474
BIC nucleic acid #: 2685delA
chr13:32910949 (+) chr13:32336812 (+)
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
chr13:32910963:+ chr13:32336826:+
Exon 11 Deletion c.2471_2476del6 5 - Definitely pathogenic >0.99 Purnomasari (2005) J Clin Pathol 58; 493
BIC nucleic acid #: 2699_2704del6
chr13:32910963-32910968 (+) chr13:32336826-32336831 (+)
Exon 11 Insertion c.2480dupA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 2708dupA
chr13:32910972-32910973 (+) chr13:32336835-32336836 (+)
Exon 11 Insertion c.2500_2501insG 5 - Definitely pathogenic >0.99 De Silva (2017) FAM CAN 16, 329
BIC nucleic acid #: 2728_2729insG
chr13:32910992-32910993 (+) chr13:32336855-32336856 (+)
Exon 11 Insertion c.2505dupA 5 - Definitely pathogenic >0.99 Lara (2012) BR 45, 117
BIC nucleic acid #: 2733dupA
chr13:32910997-32910998 (+) chr13:32336860-32336861 (+)
Exon 11 Insertion c.2514dupA 5 - Definitely pathogenic >0.99 Azzollini (2016) EUR JIM 32, 65
BIC nucleic acid #: 2742dupA
chr13:32911006-32911007 (+) chr13:32336869-32336870 (+)
Exon 11 Nonsense c.2517C>A p.Y839* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 2745C>A
chr13:32911009:+ chr13:32336872:+
Exon 11 Nonsense c.2537C>G p.S846* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 2765C>G
chr13:32911029:+ chr13:32336892:+
Exon 11 Insertion c.2548dupC 5 - Definitely pathogenic >0.99 Hirotsu (2015) MGGM 3, 121
BIC nucleic acid #: 2776dupC
chr13:32911040-32911041 (+) chr13:32336903-32336904 (+)
Exon 11 Deletion c.2564_2565delCA 5 - Definitely pathogenic >0.99 Rodriguez (2008) Fam Cancer 7; 275
BIC nucleic acid #: 2792_2793delCA
chr13:32911056-32911057 (+) chr13:32336919-32336920 (+)
Exon 11 Insertion c.2570dupT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 2798dupT
chr13:32911062-32911063 (+) chr13:32336925-32336926 (+)
Exon 11 Deletion c.2586_2592del7 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 2814_2820del7
chr13:32911078-32911084 (+) chr13:32336941-32336947 (+)
Exon 11 Insertion c.2588dupA 5 - Definitely pathogenic >0.99 Gao (2000) Hum Genet 107; 186
BIC nucleic acid #: 2816dupA
chr13:32911080-32911081 (+) chr13:32336943-32336944 (+)
Exon 11 Deletion c.2589delT 5 - Definitely pathogenic >0.99 Musolino (2007) Breast 16; 280
BIC nucleic acid #: 2817delT
chr13:32911081 (+) chr13:32336944 (+)
Exon 11 Deletion c.2595delA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 2823delA
chr13:32911087 (+) chr13:32336950 (+)
Exon 11 Deletion c.2596_2599del4 5 - Definitely pathogenic >0.99 Ang (2007) Cancer Epidemiol Biomarkers Prev 16; 2276
BIC nucleic acid #: 2824_2827del4
chr13:32911088-32911091 (+) chr13:32336951-32336954 (+)
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:
chr13:32911098:+ chr13:32336961:+
Exon 11 Indel c.2612delCinsTTT 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 2840delCinsTTT
chr13:32911104 (+) chr13:32336967 (+)
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
chr13:32911104:+ chr13:32336967:+
Exon 11 Deletion c.2627delA 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 2855delA
chr13:32911119 (+) chr13:32336982 (+)
Exon 11 Deletion c.2636_2637delCT 5 - Definitely pathogenic >0.99 Toh (2008) PLoS One 3; e2024
BIC nucleic acid #: 2864_2867delCT
chr13:32911128-32911129 (+) chr13:32336991-32336992 (+)
Exon 11 Deletion c.2637_2638delTG 5 - Definitely pathogenic >0.99 Vaca-Paniagua (2012) PLoS One 7; e37432
BIC nucleic acid #: 2865_2866delTG
chr13:32911129-32911130 (+) chr13:32336992-32336993 (+)
Exon 11 Indel c.2648_2650delTCTinsG 5 - Definitely pathogenic >0.99 Loizidou (2017) CLIN GENET 91, 611
BIC nucleic acid #: 2876_2878delTCTinsG
chr13:32911140-32911142 (+) chr13:32337003-32337005 (+)
Exon 11 Deletion c.2653_2656del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 2881_2884del4
chr13:32911145-32911148 (+) chr13:32337008-32337011 (+)
Exon 11 Deletion c.2657delA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 2885delA
chr13:32911149 (+) chr13:32337012 (+)
Exon 11 Missense c.2680G>A p.V894I 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32911172:+ chr13:32337035:+
Exon 11 Deletion c.2692_2696del5 p.R898* 5 - Definitely pathogenic >0.99 Susswein (2016) GENET MED 18, 823
BIC nucleic acid #: 2920_2924del5
chr13:32911184-32911188 (+) chr13:32337047-32337051 (+)
Exon 11 Deletion c.2701delC 5 - Definitely pathogenic >0.99 Miramar (2008) Breast Cancer Res Treat 112; 353
BIC nucleic acid #: 2929delC
chr13:32911193 (+) chr13:32337056 (+)
Exon 11 Deletion c.2731delG 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 2959delG
chr13:32911223 (+) chr13:32337086 (+)
Exon 11 Deletion c.2743_2747del5 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 2971_2975del5
chr13:32911235-32911239 (+) chr13:32337098-32337102 (+)
Exon 11 Nonsense c.2748T>A p.C916* 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 2976T>A
chr13:32911240:+ chr13:32337103:+
Exon 11 Deletion c.2760delC 5 - Definitely pathogenic >0.99 Scott (2003) Hum Genet 112; 542
BIC nucleic acid #: 2988delC
chr13:32911252 (+) chr13:32337115 (+)
Exon 11 Insertion c.2765dupT 5 - Definitely pathogenic >0.99 Kiechle (2000) Hum Mutat 16; 529
BIC nucleic acid #: 2993dupT
chr13:32911257-32911258 (+) chr13:32337120-32337121 (+)
Exon 11 Insertion c.2773dupT 5 - Definitely pathogenic >0.99 Beristain (2007) Breast Cancer Res Treat 106; 255
BIC nucleic acid #: 3001dupT
chr13:32911265-32911266 (+) chr13:32337128-32337129 (+)
Exon 11 Deletion c.2774_2775delCT 5 - Definitely pathogenic >0.99 Torres (2009) Genet Test Mol Biomarkers 13; 631
BIC nucleic acid #: 3002_3003delCT
chr13:32911266-32911267 (+) chr13:32337129-32337130 (+)
Exon 11 Deletion c.2780delT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 3008delT
chr13:32911272 (+) chr13:32337135 (+)
Exon 11 Deletion c.2786delT 5 - Definitely pathogenic >0.99 S/NI Consortium (2003) Br J Cancer 88; 1256
BIC nucleic acid #: 3014delT
chr13:32911278 (+) chr13:32337141 (+)
Exon 11 Nonsense c.2786T>G p.L929* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 3014T>G
chr13:32911278:+ chr13:32337141:+
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:
chr13:32911278:+ chr13:32337141:+
Exon 11 Insertion c.2786dupT 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3014dupT
chr13:32911278-32911279 (+) chr13:32337141-32337142 (+)
Exon 11 Deletion c.2798_2799delCA 5 - Definitely pathogenic >0.99 Choi (2004) J Clin Oncol 22; 1638
BIC nucleic acid #: 3026_3027delCA
chr13:32911290-32911291 (+) chr13:32337153-32337154 (+)
Exon 11 Missense c.2803G>A p.D935N 1 - Not pathogenic or of no clinical significance 0.00005 Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008
BIC nucleic acid #: 3031G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.64
  • Combined: 0.64
Observational data
  • Segregation: 2.7
  • Pathology: 0.72
  • Sum Family:
  • Co-occurrence: 0.0000133
  • Functional assay:
  • Products of LRs: 0.0000259
chr13:32911295:+ chr13:32337158:+
Exon 11 Deletion c.2805_2808del4 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 3033_3036del4
chr13:32911297-32911300 (+) chr13:32337160-32337163 (+)
Exon 11 Deletion c.2808delA 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 3036delA
chr13:32911300 (+) chr13:32337163 (+)
Exon 11 Deletion c.2808_2811del4 5 - Definitely pathogenic >0.99 Wooster (1995) Nature 378; 789
BIC nucleic acid #: 3036_3039del4
chr13:32911300-32911303 (+) chr13:32337163-32337166 (+)
Exon 11 Deletion c.2810_2811delAA 5 - Definitely pathogenic >0.99 Couch (1996) Nat Genet 13; 123
BIC nucleic acid #: 3038_3039delAA
chr13:32911302-32911303 (+) chr13:32337165-32337166 (+)
Exon 11 Deletion c.2812_2815del4 5 - Definitely pathogenic >0.99 Purnomosari (2007) Breast Cancer Res Treat 106; 297
BIC nucleic acid #: 3040_3043del4
chr13:32911304-32911307 (+) chr13:32337167-32337170 (+)
Exon 11 Nonsense c.2818C>T p.Q940* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3046C>T
chr13:32911310:+ chr13:32337173:+
Exon 11 Deletion c.2828_2831del4 5 - Definitely pathogenic >0.99 van der Merwe (2012) Clin Genet 81; 179
BIC nucleic acid #: 3056_3059del4
chr13:32911320-32911323 (+) chr13:32337183-32337186 (+)
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
chr13:32911322:+ chr13:32337185:+
Exon 11 Deletion c.2835delA 5 - Definitely pathogenic >0.99 Armakolas (2001) Hum Mutat 19; 81
BIC nucleic acid #: 3063delA
chr13:32911327 (+) chr13:32337190 (+)
Exon 11 Insertion c.2835dupA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 3063dupA
chr13:32911327-32911328 (+) chr13:32337190-32337191 (+)
Exon 11 Deletion c.2836delG 5 - Definitely pathogenic >0.99 Kote-Jarai (2011) Br J Cancer 105; 1230
BIC nucleic acid #: 3064delG
chr13:32911328 (+) chr13:32337191 (+)
Exon 11 Deletion c.2836_2837delGA 5 - Definitely pathogenic >0.99 Kote-Jarai (2011) Br J Cancer 105; 1230
BIC nucleic acid #: 3064_3065delGA
chr13:32911328-32911329 (+) chr13:32337191-32337192 (+)
Exon 11 Deletion c.2845delT 5 - Definitely pathogenic >0.99 Li (1999) Hum Genet 104; 201
BIC nucleic acid #: 3073delT
chr13:32911337 (+) chr13:32337200 (+)
Exon 11 Deletion c.2860delG 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 3088delG
chr13:32911352 (+) chr13:32337215 (+)
Exon 11 Deletion c.2870delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3098delA
chr13:32911362 (+) chr13:32337225 (+)
Exon 11 Deletion c.2899_2900delCT 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 3127_3128delCT
chr13:32911391-32911392 (+) chr13:32337254-32337255 (+)
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
chr13:32911404:+ chr13:32337267:+
Exon 11 Nonsense c.2914A>T p.K972* 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 3142A>T
chr13:32911406:+ chr13:32337269:+
Exon 11 Nonsense c.2918C>A p.S973* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3146C>A
chr13:32911410:+ chr13:32337273:+
Exon 11 Deletion c.2920delG 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 3148delG
chr13:32911412 (+) chr13:32337275 (+)
Exon 11 Deletion c.2928delC 5 - Definitely pathogenic >0.99 Shindo (2017) JCO 35, 3382
BIC nucleic acid #: 3156delC
chr13:32911420 (+) chr13:32337283 (+)
Exon 11 Deletion c.2944delA 5 - Definitely pathogenic >0.99 Miele (2015) BIOMARK R 3, 13
BIC nucleic acid #: 3172delA
chr13:32911436 (+) chr13:32337299 (+)
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
chr13:32911442:+ chr13:32337305:+
Exon 11 Deletion c.2954_2957del4 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 3182_3185del4
chr13:32911446-32911449 (+) chr13:32337309-32337312 (+)
Exon 11 Deletion c.2957delA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 3185delA
chr13:32911449 (+) chr13:32337312 (+)
Exon 11 Insertion c.2957dupA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3185dupA
chr13:32911449-32911450 (+) chr13:32337312-32337313 (+)
Exon 11 Insertion c.2957_2958insG 5 - Definitely pathogenic >0.99 Holter (2015) JCO 33, 3124
BIC nucleic acid #: 3185_3186insG
chr13:32911449-32911450 (+) chr13:32337312-32337313 (+)
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:
chr13:32911452:+ chr13:32337315:+
Exon 11 Nonsense c.2967C>G p.Y989* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 3195C>G
chr13:32911459:+ chr13:32337322:+
Exon 11 Deletion c.2971_2983del13 5 - Definitely pathogenic >0.99 Yurgelun (2015) GASTROENT 149, 604
BIC nucleic acid #: 3199_3211del13
chr13:32911463-32911475 (+) chr13:32337326-32337338 (+)
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
chr13:32911471:+ chr13:32337334:+
Exon 11 Nonsense c.2983G>T p.G995* 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 3211G>T
chr13:32911475:+ chr13:32337338:+
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
chr13:32911482:+ chr13:32337345:+
Exon 11 Nonsense c.2990T>G p.L997* 5 - Definitely pathogenic >0.99 Rashid (2016) BMC C 16,
BIC nucleic acid #: 3218T>G
chr13:32911482:+ chr13:32337345:+
Exon 11 Nonsense c.3002C>G p.S1001* 5 - Definitely pathogenic >0.99 Couch (2015) JCO 33, 304
BIC nucleic acid #: 3230C>G
chr13:32911494:+ chr13:32337357:+
Exon 11 Deletion c.3009_3010delCA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3237_3238delCA
chr13:32911501-32911502 (+) chr13:32337364-32337365 (+)
Exon 11 Insertion c.3014_3015dupTT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3242_3243dupTT
chr13:32911507-32911508 (+) chr13:32337370-32337371 (+)
Exon 11 Deletion c.3018delA 5 - Definitely pathogenic >0.99 Noh (2011) Breast Cancer Res Treat 131; 217
BIC nucleic acid #: 3246delA
chr13:32911510 (+) chr13:32337373 (+)
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
chr13:32911535:+ chr13:32337398:+
Exon 11 Deletion c.3051delC 5 - Definitely pathogenic >0.99 Hamann (2002) J Med Genet 39; e12
BIC nucleic acid #: 3279delC
chr13:32911543 (+) chr13:32337406 (+)
Exon 11 Missense c.3055C>G p.L1019V 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32911547:+ chr13:32337410:+
Exon 11 Insertion c.3068dupA 5 - Definitely pathogenic >0.99 Liede (1998) Am J Hum Genet 62; 1543
BIC nucleic acid #: 3296dupA
chr13:32911560-32911561 (+) chr13:32337423-32337424 (+)
Exon 11 Deletion c.3070_3071delAT 5 - Definitely pathogenic >0.99 Cunningham (2014) SCI REP 4, 4026
BIC nucleic acid #: 3298_3299delAT
chr13:32911562-32911563 (+) chr13:32337425-32337426 (+)
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
chr13:32911567-32911568 (+) chr13:32337430-32337431 (+)
Exon 11 Nonsense c.3076A>T p.K1026* 5 - Definitely pathogenic >0.99 Foretova (2004) Hum Mutat 23; 397
BIC nucleic acid #: 3304A>T
chr13:32911568:+ chr13:32337431:+
Exon 11 Indel c.3096_3110del15insT 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3324_3338del15insT
chr13:32911588-32911602 (+) chr13:32337451-32337465 (+)
Exon 11 Nonsense c.3103G>T p.E1035* 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 3331G>T
chr13:32911595:+ chr13:32337458:+
Exon 11 Nonsense c.3109C>T p.Q1037* 5 - Definitely pathogenic >0.99 Khoo (2000) Hum Mutat 16; 88
BIC nucleic acid #: 3337C>T
chr13:32911601:+ chr13:32337464:+
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
chr13:32911628:+ chr13:32337491:+
Exon 11 Deletion c.3146delA 5 - Definitely pathogenic >0.99 Diez (2000) Ann Oncol 11; 81
BIC nucleic acid #: 3374delA
chr13:32911638 (+) chr13:32337501 (+)
Exon 11 Missense c.3156A>C p.A1052A 1 - Not pathogenic or of no clinical significance 0.001 Thomassen M et al., Breast Cancer Res Treat 132: 1009-1023, 2012 Tavtigian SV et al., Hum Mutat, 29(11):1342-1354, 2008
BIC nucleic acid #: 3384A>C
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.025
  • Pathology:
  • Sum Family:
  • Co-occurrence: 1.03
  • Functional assay:
  • Products of LRs: 0.0256
chr13:32911648:+ chr13:32337511:+
Exon 11 Nonsense c.3158T>G p.L1053* 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3386T>G
chr13:32911650:+ chr13:32337513:+
Exon 11 Deletion c.3159delA 5 - Definitely pathogenic >0.99 Béroud (2016) HUM MUT 37, 1318
BIC nucleic acid #: 3387delA
chr13:32911651 (+) chr13:32337514 (+)
Exon 11 Deletion c.3160_3163del4 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 3388_3391del4
chr13:32911652-32911655 (+) chr13:32337515-32337518 (+)
Exon 11 Nonsense c.3166C>T p.Q1056* 5 - Definitely pathogenic >0.99 Rodriguez (2008) Fam Cancer 7; 275
BIC nucleic acid #: 3394C>T
chr13:32911658:+ chr13:32337521:+
Exon 11 Deletion c.3167_3170del4 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3395_3398del4
chr13:32911659-32911662 (+) chr13:32337522-32337525 (+)
Exon 11 Deletion c.3170_3174del5 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3398_3402del5
chr13:32911662-32911666 (+) chr13:32337525-32337529 (+)
Exon 11 Nonsense c.3172A>T p.K1058* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 3400A>T
chr13:32911664:+ chr13:32337527:+
Exon 11 Deletion c.3176_3177delTG 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3404_3405delTG
chr13:32911668-32911669 (+) chr13:32337531-32337532 (+)
Exon 11 Nonsense c.3187C>T p.Q1063* 5 - Definitely pathogenic >0.99 Mannan (2016) JHG 61, 515
BIC nucleic acid #: 3415C>T
chr13:32911679:+ chr13:32337542:+
Exon 11 Deletion c.3189_3192del4 5 - Definitely pathogenic >0.99 Balci (1999) Eur J Cancer 35; 707
BIC nucleic acid #: 3417_3420del4
chr13:32911681-32911684 (+) chr13:32337544-32337547 (+)
Exon 11 Deletion c.3195delT 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 3423delT
chr13:32911687 (+) chr13:32337550 (+)
Exon 11 Deletion c.3195_3198del4 5 - Definitely pathogenic >0.99 Kim (2006) Biochem Biophys Res Commun 349; 604
BIC nucleic acid #: 3423_3426del4
chr13:32911687-32911690 (+) chr13:32337550-32337553 (+)
Exon 11 Deletion c.3199delA 5 - Definitely pathogenic >0.99 Gorski (2004) Int J Cancer 110; 683
BIC nucleic acid #: 3427delA
chr13:32911691 (+) chr13:32337554 (+)
Exon 11 Deletion c.3202delG 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 3430delG
chr13:32911694 (+) chr13:32337557 (+)
Exon 11 Nonsense c.3217C>T p.Q1073* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 3445C>T
chr13:32911709:+ chr13:32337572:+
Exon 11 Deletion c.3226delG 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 3454delG
chr13:32911718 (+) chr13:32337581 (+)
Exon 11 Deletion c.3226_3230del5 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3454_3458del5
chr13:32911718-32911722 (+) chr13:32337581-32337585 (+)
Exon 11 Deletion c.3235delT 5 - Definitely pathogenic >0.99 Coulet (2010) Genet Test Mol Biomarkers 14; 677
BIC nucleic acid #: 3463delT
chr13:32911727 (+) chr13:32337590 (+)
Exon 11 Deletion c.3248delA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 3476delA
chr13:32911740 (+) chr13:32337603 (+)
Exon 11 Deletion c.3263delC 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 3491delC
chr13:32911755 (+) chr13:32337618 (+)
Exon 11 Insertion c.3263dupC 5 - Definitely pathogenic >0.99 Blay (2013) BMC Cancer 13; 243
BIC nucleic acid #: 3491dupC
chr13:32911755-32911756 (+) chr13:32337618-32337619 (+)
Exon 11 Insertion c.3264dupT 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 3492dupT
chr13:32911756-32911757 (+) chr13:32337619-32337620 (+)
Exon 11 Insertion c.3264_3265insTT 5 - Definitely pathogenic >0.99 de la Hoya (2003) JAMA 290; 929
BIC nucleic acid #: 3492_3493insTT
chr13:32911756-32911757 (+) chr13:32337619-32337620 (+)
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
chr13:32911757:+ chr13:32337620:+
Exon 11 Deletion c.3267_3268delGA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3495_3496delGA
chr13:32911759-32911760 (+) chr13:32337622-32337623 (+)
Exon 11 Indel c.3268_3269delATinsG 5 - Definitely pathogenic >0.99 Choi (2015) IJGC 25, 1386
BIC nucleic acid #: 3496_3497delATinsG
chr13:32911760-32911761 (+) chr13:32337623-32337624 (+)
Exon 11 Deletion c.3269delT 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3497delT
chr13:32911761 (+) chr13:32337624 (+)
Exon 11 Deletion c.3270delG 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 3498delG
chr13:32911762 (+) chr13:32337625 (+)
Exon 11 Deletion c.3277delT 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 3505delT
chr13:32911769 (+) chr13:32337632 (+)
Exon 11 Nonsense c.3280A>T p.K1094* 5 - Definitely pathogenic >0.99 Gabaldó Barrios (2017) FAM CAN ,
BIC nucleic acid #: 3508A>T
chr13:32911772:+ chr13:32337635:+
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
chr13:32911775:+ chr13:32337638:+
Exon 11 Deletion c.3295delT 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol 121; 353
BIC nucleic acid #: 3523delT
chr13:32911787 (+) chr13:32337650 (+)
Exon 11 Nonsense c.3296C>A p.S1099* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3524C>A
chr13:32911788:+ chr13:32337651:+
Exon 11 Nonsense c.3296C>G p.S1099* 5 - Definitely pathogenic >0.99 Tereschenko (2002) Hum Mutat 19; 184
BIC nucleic acid #: 3524C>G
chr13:32911788:+ chr13:32337651:+
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:
chr13:32911796:+ chr13:32337659:+
Exon 11 Nonsense c.3319C>T p.Q1107* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3547C>T
chr13:32911811:+ chr13:32337674:+
Exon 11 Deletion c.3343delT 5 - Definitely pathogenic >0.99 Solano (2016) ONCTARG 8, 60487
BIC nucleic acid #: 3571delT
chr13:32911835 (+) chr13:32337698 (+)
Exon 11 Deletion c.3345delT 5 - Definitely pathogenic >0.99 Lolas Hamameh (2017) IJC 141, 750
BIC nucleic acid #: 3573delT
chr13:32911837 (+) chr13:32337700 (+)
Exon 11 Deletion c.3351delA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3579delA
chr13:32911843 (+) chr13:32337706 (+)
Exon 11 Deletion c.3352_3356del5 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 3580_3584del5
chr13:32911844-32911848 (+) chr13:32337707-32337711 (+)
Exon 11 Deletion c.3354delA 5 - Definitely pathogenic >0.99 Santarosa (1999) Int J Cancer 83; 5
BIC nucleic acid #: 3582delA
chr13:32911846 (+) chr13:32337709 (+)
Exon 11 Deletion c.3358delG 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3586delG
chr13:32911850 (+) chr13:32337713 (+)
Exon 11 Nonsense c.3362C>A p.S1121* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3590C>A
chr13:32911854:+ chr13:32337717:+
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
chr13:32911854:+ chr13:32337717:+
Exon 11 Deletion c.3365delG 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3593delG
chr13:32911857 (+) chr13:32337720 (+)
Exon 11 Deletion c.3366_3367delAA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3594_3595delAA
chr13:32911858-32911859 (+) chr13:32337721-32337722 (+)
Exon 11 Deletion c.3381delT 5 - Definitely pathogenic >0.99 Tazzite (2012) Gynecol Oncol 125; 687
BIC nucleic acid #: 3609delT
chr13:32911873 (+) chr13:32337736 (+)
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
chr13:32911897:+ chr13:32337760:+
Exon 11 Insertion c.3411dupG 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3639dupG
chr13:32911903-32911904 (+) chr13:32337766-32337767 (+)
Exon 11 Nonsense c.3412C>T p.Q1138* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3640C>T
chr13:32911904:+ chr13:32337767:+
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
chr13:32911934:+ chr13:32337797:+
Exon 11 Insertion c.3445_3446dupAT 5 - Definitely pathogenic >0.99 Kim (2017) BMC MG 18,
BIC nucleic acid #: 3673_3674dupAT
chr13:32911938-32911939 (+) chr13:32337801-32337802 (+)
Exon 11 Insertion c.3449_3450insAG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 3677_3678insAG
chr13:32911941-32911942 (+) chr13:32337804-32337805 (+)
Exon 11 Insertion c.3452dupT 5 - Definitely pathogenic >0.99 Zweemer (1998) Am J Obstet Gynecol 178; 85
BIC nucleic acid #: 3680dupT
chr13:32911944-32911945 (+) chr13:32337807-32337808 (+)
Exon 11 Deletion c.3453delC 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 3681delC
chr13:32911945 (+) chr13:32337808 (+)
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
chr13:32911947:+ chr13:32337810:+
Exon 11 Deletion c.3465_3466delTT 5 - Definitely pathogenic >0.99 Yazici (2002) Hum Mutat 20; 28
BIC nucleic acid #: 3693_3694delTT
chr13:32911957-32911958 (+) chr13:32337820-32337821 (+)
Exon 11 Deletion c.3487delG 5 - Definitely pathogenic >0.99 Leegte (2005) J Med Genet 42; e20
BIC nucleic acid #: 3715delG
chr13:32911979 (+) chr13:32337842 (+)
Exon 11 Deletion c.3506delA 5 - Definitely pathogenic >0.99 Akbari (2008) Oncogene 27; 1290
BIC nucleic acid #: 3734delA
chr13:32911998 (+) chr13:32337861 (+)
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:
chr13:32912001:+ chr13:32337864:+
Exon 11 Missense c.3515C>T p.S1172L 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32912007:+ chr13:32337870:+
Exon 11 Deletion c.3530_3533del4 5 - Definitely pathogenic >0.99 Loizidou (2017) CLIN GENET 91, 611
BIC nucleic acid #: 3758_3761del4
chr13:32912022-32912025 (+) chr13:32337885-32337888 (+)
Exon 11 Deletion c.3531_3534del4 5 - Definitely pathogenic >0.99 Loizidou (2007) Clin Genet 71; 165
BIC nucleic acid #: 3759_3762del4
chr13:32912023-32912026 (+) chr13:32337886-32337889 (+)
Exon 11 Deletion c.3545_3546delTT 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3773_3774delTT
chr13:32912037-32912038 (+) chr13:32337900-32337901 (+)
Exon 11 Deletion c.3554_3555delCA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3782_3783delCA
chr13:32912046-32912047 (+) chr13:32337909-32337910 (+)
Exon 11 Deletion c.3554_3563del10 5 - Definitely pathogenic >0.99 Koumpis (2011) Hered Cancer Clin Pract 9;
BIC nucleic acid #: 3782_3791del10
chr13:32912046-32912055 (+) chr13:32337909-32337918 (+)
Exon 11 Deletion c.3556_3565del10 5 - Definitely pathogenic >0.99 Konstantopoulou (2008) Breast Cancer Res Treat 107; 431
BIC nucleic acid #: 3784_3793del10
chr13:32912048-32912057 (+) chr13:32337911-32337920 (+)
Exon 11 Missense c.3568C>T p.R1190W 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32912060:+ chr13:32337923:+
Exon 11 Deletion c.3570delG 5 - Definitely pathogenic >0.99 De Leon Matsuda (2002) Int J Cancer 98; 596
BIC nucleic acid #: 3798delG
chr13:32912062 (+) chr13:32337925 (+)
Exon 11 Deletion c.3572delA 5 - Definitely pathogenic >0.99 Takai (2016) ONCTARG epub, epub
BIC nucleic acid #: 3800delA
chr13:32912064 (+) chr13:32337927 (+)
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:
chr13:32912073:+ chr13:32337936:+
Exon 11 Deletion c.3593delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 3821delA
chr13:32912085 (+) chr13:32337948 (+)
Exon 11 Deletion c.3596_3599del4 5 - Definitely pathogenic >0.99 Becker (2012) Breast Cancer Res Treat 135; 167
BIC nucleic acid #: 3824_3827del4
chr13:32912088-32912091 (+) chr13:32337951-32337954 (+)
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
chr13:32912091-32912092 (+) chr13:32337954-32337955 (+)
Exon 11 Deletion c.3607delA 5 - Definitely pathogenic >0.99 Maxwell (2017) NAT COMM 8, 319
BIC nucleic acid #: 3835delA
chr13:32912099 (+) chr13:32337962 (+)
Exon 11 Deletion c.3621_3624del4 p.Y1207* 5 - Definitely pathogenic >0.99 Lolas Hamameh (2017) IJC 141, 750
BIC nucleic acid #: 3849_3852del4
chr13:32912113-32912116 (+) chr13:32337976-32337979 (+)
Exon 11 Nonsense c.3631G>T p.E1211* 5 - Definitely pathogenic >0.99 Schroeder (2015) BCRT 152, 129
BIC nucleic acid #: 3859G>T
chr13:32912123:+ chr13:32337986:+
Exon 11 Deletion c.3635delA 5 - Definitely pathogenic >0.99 Santonocito (2017) BREAST 36, 74
BIC nucleic acid #: 3863delA
chr13:32912127 (+) chr13:32337990 (+)
Exon 11 Deletion c.3639_3652del14 5 - Definitely pathogenic >0.99 Weren (2017) HUM MUT 38, 226
BIC nucleic acid #: 3867_3880del14
chr13:32912131-32912144 (+) chr13:32337994-32338007 (+)
Exon 11 Insertion c.3641dupT 5 - Definitely pathogenic >0.99 Csokay (1999) Cancer Res 59; 995
BIC nucleic acid #: 3869dupT
chr13:32912133-32912134 (+) chr13:32337996-32337997 (+)
Exon 11 Deletion c.3645delG 5 - Definitely pathogenic >0.99 Lara (2012) BR 45, 117
BIC nucleic acid #: 3873delG
chr13:32912137 (+) chr13:32338000 (+)
Exon 11 Indel c.3645_3646delGTins7 5 - Definitely pathogenic >0.99 Hamann (2003) Eur J Hum Genet 11; 464
BIC nucleic acid #: 3873_3874delGTins7
chr13:32912137-32912138 (+) chr13:32338000-32338001 (+)
Exon 11 Deletion c.3680_3681delTG 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 3908_3909delTG
chr13:32912172-32912173 (+) chr13:32338035-32338036 (+)
Exon 11 Missense c.3682A>G p.N1228D 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32912174:+ chr13:32338037:+
Exon 11 Insertion c.3683_3684insG 5 - Definitely pathogenic >0.99 Minucci (2015) ERMD 15, 1383
BIC nucleic acid #: 3911_3912insG
chr13:32912175-32912176 (+) chr13:32338038-32338039 (+)
Exon 11 Deletion c.3685delG 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 3913delG
chr13:32912177 (+) chr13:32338040 (+)
Exon 11 Deletion c.3689delC 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 3917delC
chr13:32912181 (+) chr13:32338044 (+)
Exon 11 Insertion c.3708dupA 5 - Definitely pathogenic >0.99 Meisel (2017) ARCH GOB ,
BIC nucleic acid #: 3936dupA
chr13:32912200-32912201 (+) chr13:32338063-32338064 (+)
Exon 11 Deletion c.3717delA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 3945delA
chr13:32912209 (+) chr13:32338072 (+)
Exon 11 Indel c.3723_3725delTAGinsAT 5 - Definitely pathogenic >0.99 Monne (2007) Fam Cancer 6; 73
BIC nucleic acid #: 3951_3953delTAGinsAT
chr13:32912215-32912217 (+) chr13:32338078-32338080 (+)
Exon 11 Deletion c.3739delA 5 - Definitely pathogenic >0.99 Schroeder (2015) BCRT 152, 129
BIC nucleic acid #: 3967delA
chr13:32912231 (+) chr13:32338094 (+)
Exon 11 Deletion c.3741delT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 3969delT
chr13:32912233 (+) chr13:32338096 (+)
Exon 11 Deletion c.3744_3747del4 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 3972_3975del4
chr13:32912236-32912239 (+) chr13:32338099-32338102 (+)
Exon 11 Insertion c.3751dupA 5 - Definitely pathogenic >0.99 Yazici (2002) Hum Mutat 20; 28
BIC nucleic acid #: 3979dupA
chr13:32912243-32912244 (+) chr13:32338106-32338107 (+)
Exon 11 Deletion c.3772delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 4000delA
chr13:32912264 (+) chr13:32338127 (+)
Exon 11 Deletion c.3778_3779delTT 5 - Definitely pathogenic >0.99 Risch (2006) J Natl Cancer Inst 98; 1694
BIC nucleic acid #: 4006_4007delTT
chr13:32912270-32912271 (+) chr13:32338133-32338134 (+)
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
chr13:32912277:+ chr13:32338140:+
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:
chr13:32912285:+ chr13:32338148:+
Exon 11 Nonsense c.3812C>G p.S1271* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 4040C>G
chr13:32912304:+ chr13:32338167:+
Exon 11 Deletion c.3821delA 5 - Definitely pathogenic >0.99 Hasmad (2015) GYN ONC epub, epub
BIC nucleic acid #: 4049delA
chr13:32912313 (+) chr13:32338176 (+)
Exon 11 Deletion c.3824_3827del4 5 - Definitely pathogenic >0.99 Rashid (2006) Int J Cancer 119; 2832
BIC nucleic acid #: 4052_4055del4
chr13:32912316-32912319 (+) chr13:32338179-32338182 (+)
Exon 11 Deletion c.3830delA 5 - Definitely pathogenic >0.99 Sakayori (2003) J Hum Genet 48; 130
BIC nucleic acid #: 4058delA
chr13:32912322 (+) chr13:32338185 (+)
Exon 11 Deletion c.3834_3835delTA 5 - Definitely pathogenic >0.99 Zhong (2016) PLOS ONE 11, e0156789
BIC nucleic acid #: 4062_4063delTA
chr13:32912326-32912327 (+) chr13:32338189-32338190 (+)
Exon 11 Deletion c.3836delA 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 4064delA
chr13:32912328 (+) chr13:32338191 (+)
Exon 11 Deletion c.3837delT 5 - Definitely pathogenic >0.99 Couch (2007) Cancer Epidemiol Biomarkers Prev 16; 342
BIC nucleic acid #: 4065delT
chr13:32912329 (+) chr13:32338192 (+)
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:
chr13:32912331:+ chr13:32338194:+
Exon 11 Deletion c.3845_3846delCT 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 4073_4074delCT
chr13:32912337-32912338 (+) chr13:32338200-32338201 (+)
Exon 11 Deletion c.3847delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4075delG
chr13:32912339 (+) chr13:32338202 (+)
Exon 11 Deletion c.3847_3848delGT 5 - Definitely pathogenic >0.99 Tavtigian (1996) Nat Genet 12; 333
BIC nucleic acid #: 4075_4076delGT
chr13:32912339-32912340 (+) chr13:32338202-32338203 (+)
Exon 11 Deletion c.3849_3852del4 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 4077_4080del4
chr13:32912341-32912344 (+) chr13:32338204-32338207 (+)
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
chr13:32912350-32912352 (+) chr13:32338213-32338215 (+)
Exon 11 Deletion c.3860delA 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 4088delA
chr13:32912352 (+) chr13:32338215 (+)
Exon 11 Insertion c.3860dupA 5 - Definitely pathogenic >0.99 Sarantaus (2000) Eur J Hum Genet 8; 757
BIC nucleic acid #: 4088dupA
chr13:32912352-32912353 (+) chr13:32338215-32338216 (+)
Exon 11 Deletion c.3860_3863del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4088_4091del4
chr13:32912352-32912355 (+) chr13:32338215-32338218 (+)
Exon 11 Insertion c.3863dupA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 4091dupA
chr13:32912355-32912356 (+) chr13:32338218-32338219 (+)
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
chr13:32912357-32912360 (+) chr13:32338220-32338223 (+)
Exon 11 Deletion c.3866_3867delAA 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 4094_4095delAA
chr13:32912358-32912359 (+) chr13:32338221-32338222 (+)
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
chr13:32912363:+ chr13:32338226:+
Exon 11 Deletion c.3873delA 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 4101delA
chr13:32912365 (+) chr13:32338228 (+)
Exon 11 Nonsense c.3881T>G p.L1294* 5 - Definitely pathogenic >0.99 De Silva (2017) FAM CAN 16, 329
BIC nucleic acid #: 4109T>G
chr13:32912373:+ chr13:32338236:+
Exon 11 Nonsense c.3883C>T p.Q1295* 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 4111C>T
chr13:32912375:+ chr13:32338238:+
Exon 11 Deletion c.3887delA 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 4115delA
chr13:32912379 (+) chr13:32338242 (+)
Exon 11 Deletion c.3897_3901del5 5 - Definitely pathogenic >0.99 Tedaldi (2017) ONCTARG epub, epub
BIC nucleic acid #: 4125_4129del5
chr13:32912389-32912393 (+) chr13:32338252-32338256 (+)
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
chr13:32912392-32912394 (+) chr13:32338255-32338257 (+)
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
chr13:32912396-32912398 (+) chr13:32338259-32338261 (+)
Exon 11 Deletion c.3915delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4143delT
chr13:32912407 (+) chr13:32338270 (+)
Exon 11 Missense c.3916G>A p.V1306I 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32912408:+ chr13:32338271:+
Exon 11 Deletion c.3919delG 5 - Definitely pathogenic >0.99 Armakolas (2001) Hum Mutat 19; 81
BIC nucleic acid #: 4147delG
chr13:32912411 (+) chr13:32338274 (+)
Exon 11 Nonsense c.3919G>T p.E1307* 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 4147G>T
chr13:32912411:+ chr13:32338274:+
Exon 11 Nonsense c.3922G>T p.E1308* 5 - Definitely pathogenic >0.99 Duran (2003) Hum Mutat 21; 448
BIC nucleic acid #: 4150G>T
chr13:32912414:+ chr13:32338277:+
Exon 11 Deletion c.3929delC 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 4157delC
chr13:32912421 (+) chr13:32338284 (+)
Exon 11 Deletion c.3936_3954del19 5 - Definitely pathogenic >0.99 de Sanjose (2003) Int J Cancer 106; 588
BIC nucleic acid #: 4164_4183del19
chr13:32912428-32912446 (+) chr13:32338291-32338309 (+)
Exon 11 Deletion c.3939delC p.Y1313* 5 - Definitely pathogenic >0.99 Pohlreich (2005) Breast Cancer Res 7; R728
BIC nucleic acid #: 4167delC
chr13:32912431 (+) chr13:32338294 (+)
Exon 11 Deletion c.3957_3958delTG 5 - Definitely pathogenic >0.99 Ng (2016) CLIN GENET 90, 315
BIC nucleic acid #: 4185_4186delTG
chr13:32912449-32912450 (+) chr13:32338312-32338313 (+)
Exon 11 Nonsense c.3958G>T p.E1320* 5 - Definitely pathogenic >0.99 Haraldsson (1998) Cancer Res 58; 1367
BIC nucleic acid #: 4186G>T
chr13:32912450:+ chr13:32338313:+
Exon 11 Nonsense c.3967A>T p.K1323* 5 - Definitely pathogenic >0.99 Zhen (2015) GENET MED 17, 569
BIC nucleic acid #: 4195A>T
chr13:32912459:+ chr13:32338322:+
Exon 11 Deletion c.3968_3969delAA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 4196_4197delAA
chr13:32912460-32912461 (+) chr13:32338323-32338324 (+)
Exon 11 Deletion c.3971delA 5 - Definitely pathogenic >0.99 El Saghir (2015) ONC 20, 357
BIC nucleic acid #: 4199delA
chr13:32912463 (+) chr13:32338326 (+)
Exon 11 Insertion c.3975_3978dup4 5 - Definitely pathogenic >0.99 Plaschke (2000) J Med Genet 37; e17
BIC nucleic acid #: 4203_4206dup4
chr13:32912470-32912471 (+) chr13:32338333-32338334 (+)
Exon 11 Deletion c.4000_4001delTT 5 - Definitely pathogenic >0.99 Susswein (2016) GENET MED 18, 823
BIC nucleic acid #: 4228_4229delTT
chr13:32912492-32912493 (+) chr13:32338355-32338356 (+)
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
chr13:32912493:+ chr13:32338356:+
Exon 11 Insertion c.4005dupA 5 - Definitely pathogenic >0.99 Ramus (1997) Am J Hum Genet 60; 1242
BIC nucleic acid #: 4233dupA
chr13:32912497-32912498 (+) chr13:32338360-32338361 (+)
Exon 11 Deletion c.4021delT 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 4249delT
chr13:32912513 (+) chr13:32338376 (+)
Exon 11 Indel c.4030_4035del6insC 5 - Definitely pathogenic >0.99 Blay (2013) BMC Cancer 13;
BIC nucleic acid #: 4258_4263del6insC
chr13:32912522-32912527 (+) chr13:32338385-32338390 (+)
Exon 11 Deletion c.4037_4038delCT 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 4265_4266delCT
chr13:32912529-32912530 (+) chr13:32338392-32338393 (+)
Exon 11 Missense c.4046T>C p.I1349T 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32912538:+ chr13:32338401:+
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:
chr13:32912546:+ chr13:32338409:+
Exon 11 Deletion c.4058_4062del5 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 4286_4290del5
chr13:32912550-32912554 (+) chr13:32338413-32338417 (+)
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:
chr13:32912553:+ chr13:32338416:+
Exon 11 Deletion c.4076delC 5 - Definitely pathogenic >0.99 Ozcelik (2003) J Med Genet 40; e91
BIC nucleic acid #: 4304delC
chr13:32912568 (+) chr13:32338431 (+)
Exon 11 Deletion c.4078delG 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 4306delG
chr13:32912570 (+) chr13:32338433 (+)
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:
chr13:32912586:+ chr13:32338449:+
Exon 11 Deletion c.4095delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 4323delT
chr13:32912587 (+) chr13:32338450 (+)
Exon 11 Insertion c.4097_4098ins4 5 - Definitely pathogenic >0.99 Gayther (1999) Am J Hum Genet 65; 1021
BIC nucleic acid #: 4325_4326ins4
chr13:32912589-32912590 (+) chr13:32338452-32338453 (+)
Exon 11 Deletion c.4101delA 5 - Definitely pathogenic >0.99 Al-Mulla (2009) J Clin Pathol 62; 350
BIC nucleic acid #: 4329delA
chr13:32912593 (+) chr13:32338456 (+)
Exon 11 Insertion c.4101dupA 5 - Definitely pathogenic >0.99 Al-Mulla (2009) J Clin Pathol 62; 350
BIC nucleic acid #: 4329dupA
chr13:32912593-32912594 (+) chr13:32338456-32338457 (+)
Exon 11 Nonsense c.4103T>A p.L1368* 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 4331T>A
chr13:32912595:+ chr13:32338458:+
Exon 11 Nonsense c.4111C>T p.Q1371* 5 - Definitely pathogenic >0.99 Torres-Mejia (2015) CEBP 24, 498
BIC nucleic acid #: 4339C>T
chr13:32912603:+ chr13:32338466:+
Exon 11 Deletion c.4121delA 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 4349delA
chr13:32912613 (+) chr13:32338476 (+)
Exon 11 Deletion c.4127_4130del4 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 4355_4358del4
chr13:32912619-32912622 (+) chr13:32338482-32338485 (+)
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
chr13:32912623-32912624 (+) chr13:32338486-32338487 (+)
Exon 11 Deletion c.4135delC 5 - Definitely pathogenic >0.99 Nelson-Moseke (2013) Fam Cancer 12; 83
BIC nucleic acid #: 4363delC
chr13:32912627 (+) chr13:32338490 (+)
Exon 11 Insertion c.4136dupA 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 4364dupA
chr13:32912628-32912629 (+) chr13:32338491-32338492 (+)
Exon 11 Deletion c.4137_4141del5 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 4365_4369del5
chr13:32912629-32912633 (+) chr13:32338492-32338496 (+)
Exon 11 Insertion c.4139_4140dupTT 5 - Definitely pathogenic >0.99 Dobricić (2010) Cancer Genet Cytogenet 202; 27
BIC nucleic acid #: 4367_4368dupTT
chr13:32912632-32912633 (+) chr13:32338495-32338496 (+)
Exon 11 Deletion c.4148_4149delAT 5 - Definitely pathogenic >0.99 Zhong (2016) PLOS ONE 11, e0156789
BIC nucleic acid #: 4376_4377delAT
chr13:32912640-32912641 (+) chr13:32338503-32338504 (+)
Exon 11 Deletion c.4151delT 5 - Definitely pathogenic >0.99 Ang (2007) Cancer Epidemiol Biomarkers Prev 16; 2276
BIC nucleic acid #: 4379delT
chr13:32912643 (+) chr13:32338506 (+)
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
chr13:32912655-32912656 (+) chr13:32338518-32338519 (+)
Exon 11 Deletion c.4168_4169delTT 5 - Definitely pathogenic >0.99 Susswein (2016) GENET MED 18, 823
BIC nucleic acid #: 4396_4397delTT
chr13:32912660-32912661 (+) chr13:32338523-32338524 (+)
Exon 11 Deletion c.4169delT 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 4397delT
chr13:32912661 (+) chr13:32338524 (+)
Exon 11 Deletion c.4171delG 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 4399delG
chr13:32912663 (+) chr13:32338526 (+)
Exon 11 Insertion c.4177dupG 5 - Definitely pathogenic >0.99 Siraj (2017) HUM GENET 136, 1431
BIC nucleic acid #: 4405dupG
chr13:32912669-32912670 (+) chr13:32338532-32338533 (+)
Exon 11 Missense c.4187A>G p.Q1396R 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32912679:+ chr13:32338542:+
Exon 11 Deletion c.4188delA 5 - Definitely pathogenic >0.99 Becker (2012) Breast Cancer Res Treat 135; 167
BIC nucleic acid #: 4416delA
chr13:32912680 (+) chr13:32338543 (+)
Exon 11 Nonsense c.4211C>G p.S1404* 5 - Definitely pathogenic >0.99 Guan (2015) FAM CAN 14, 9
BIC nucleic acid #: 4439C>G
chr13:32912703:+ chr13:32338566:+
Exon 11 Deletion c.4211_4215del5 5 - Definitely pathogenic >0.99 Cunningham (2014) SCI REP 4, 4026
BIC nucleic acid #: 4439_4443del5
chr13:32912703-32912707 (+) chr13:32338566-32338570 (+)
Exon 11 Deletion c.4218_4221del4 5 - Definitely pathogenic >0.99 Zhao (2017) JGO 28,
BIC nucleic acid #: 4446_4449del4
chr13:32912710-32912713 (+) chr13:32338573-32338576 (+)
Exon 11 Nonsense c.4222C>T p.Q1408* 5 - Definitely pathogenic >0.99 Bayraktar (2012) Cancer 118; 1515
BIC nucleic acid #: 4450C>T
chr13:32912714:+ chr13:32338577:+
Exon 11 Deletion c.4223delA 5 - Definitely pathogenic >0.99 Brozek (2008) Gynecol Oncol 108; 433
BIC nucleic acid #: 4451delA
chr13:32912715 (+) chr13:32338578 (+)
Exon 11 Insertion c.4229_4230insA 5 - Definitely pathogenic >0.99 Schneegans (2012) Fam Cancer 11; 181
BIC nucleic acid #: 4457_4458insA
chr13:32912721-32912722 (+) chr13:32338584-32338585 (+)
Exon 11 Deletion c.4240delA 5 - Definitely pathogenic >0.99 Liu (2017) CMED 6, 547
BIC nucleic acid #: 4468delA
chr13:32912732 (+) chr13:32338595 (+)
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
chr13:32912735:+ chr13:32338598:+
Exon 11 Nonsense c.4246C>T p.Q1416* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 4474C>T
chr13:32912738:+ chr13:32338601:+
Exon 11 Deletion c.4258delG 5 - Definitely pathogenic >0.99 Hakansson (1997) Am J Hum Genet 60; 1068
BIC nucleic acid #: 4486delG
chr13:32912750 (+) chr13:32338613 (+)
Exon 11 Missense c.4258G>T p.D1420Y 1 - Not pathogenic or of no clinical significance 0.0001 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:
chr13:32912750:+ chr13:32338613:+
Exon 11 Insertion c.4276dupA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 4504dupA
chr13:32912768-32912769 (+) chr13:32338631-32338632 (+)
Exon 11 Insertion c.4284dupT 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 4512dupT
chr13:32912776-32912777 (+) chr13:32338639-32338640 (+)
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:
chr13:32912793:+ chr13:32338656:+
Exon 11 Deletion c.4306_4307delAT 5 - Definitely pathogenic >0.99 Torres-Mejia (2015) CEBP 24, 498
BIC nucleic acid #: 4534_4535delAT
chr13:32912798-32912799 (+) chr13:32338661-32338662 (+)
Exon 11 Deletion c.4314delC 5 - Definitely pathogenic >0.99 Peelen (2000) Br J Cancer 82; 151
BIC nucleic acid #: 4542delC
chr13:32912806 (+) chr13:32338669 (+)
Exon 11 Deletion c.4319_4320delAA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 4547_4548delAA
chr13:32912811-32912812 (+) chr13:32338674-32338675 (+)
Exon 11 Nonsense c.4325C>A p.S1442* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 4553C>A
chr13:32912817:+ chr13:32338680:+
Exon 11 Deletion c.4339delG 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 4567delG
chr13:32912831 (+) chr13:32338694 (+)
Exon 11 Nonsense c.4354C>T p.Q1452* 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 4582C>T
chr13:32912846:+ chr13:32338709:+
Exon 11 Nonsense c.4363G>T p.E1455* 5 - Definitely pathogenic >0.99 Santonocito (2017) BREAST 36, 74
BIC nucleic acid #: 4591G>T
chr13:32912855:+ chr13:32338718:+
Exon 11 Deletion c.4380_4381delTT 5 - Definitely pathogenic >0.99 Peixoto (2006) Fam Cancer 5; 379
BIC nucleic acid #: 4608_4609delTT
chr13:32912872-32912873 (+) chr13:32338735-32338736 (+)
Exon 11 Deletion c.4398delA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 4626delA
chr13:32912890 (+) chr13:32338753 (+)
Exon 11 Deletion c.4398_4402del5 5 - Definitely pathogenic >0.99 Agalliu (2007) Br J Cancer 97; 826
BIC nucleic acid #: 4626_4630del5
chr13:32912890-32912894 (+) chr13:32338753-32338757 (+)
Exon 11 Deletion c.4405_4409del5 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 4633_4637del5
chr13:32912897-32912901 (+) chr13:32338760-32338764 (+)
Exon 11 Deletion c.4409_4413del5 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 4637_4641del5
chr13:32912901-32912905 (+) chr13:32338764-32338768 (+)
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
chr13:32912906-32912907 (+) chr13:32338769-32338770 (+)
Exon 11 Deletion c.4415_4418del4 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 4643_4646del4
chr13:32912907-32912910 (+) chr13:32338770-32338773 (+)
Exon 11 Insertion c.4436_4437ins4 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 4664_4665ins4
chr13:32912928-32912929 (+) chr13:32338791-32338792 (+)
Exon 11 Nonsense c.4440T>G p.Y1480* 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 4668T>G
chr13:32912932:+ chr13:32338795:+
Exon 11 Deletion c.4449delA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 4677delA
chr13:32912941 (+) chr13:32338804 (+)
Exon 11 Deletion c.4456_4459del4 5 - Definitely pathogenic >0.99 Verhoog (1999) J Clin Oncol 17; 3396
BIC nucleic acid #: 4684_4687del4
chr13:32912948-32912951 (+) chr13:32338811-32338814 (+)
Exon 11 Deletion c.4460_4461delAA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 4688_4689delAA
chr13:32912952-32912953 (+) chr13:32338815-32338816 (+)
Exon 11 Deletion c.4464_4465delCA 5 - Definitely pathogenic >0.99 Norquist (2011) J Clin Oncol 29; 3008
BIC nucleic acid #: 4692_4693delCA
chr13:32912956-32912957 (+) chr13:32338819-32338820 (+)
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
chr13:32912957:+ chr13:32338820:+
Exon 11 Deletion c.4467_4471del5 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 4695_4699del5
chr13:32912959-32912963 (+) chr13:32338822-32338826 (+)
Exon 11 Deletion c.4471_4474del4 5 - Definitely pathogenic >0.99 Pal (2014) JCOMMG 5, 157
BIC nucleic acid #: 4699_4702del4
chr13:32912963-32912966 (+) chr13:32338826-32338829 (+)
Exon 11 Deletion c.4472_4475del4 5 - Definitely pathogenic >0.99 Cunningham (2014) SCI REP 4, 4026
BIC nucleic acid #: 4700_4703del4
chr13:32912964-32912967 (+) chr13:32338827-32338830 (+)
Exon 11 Insertion c.4473_4474ins4 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 4701_4702ins4
chr13:32912965-32912966 (+) chr13:32338828-32338829 (+)
Exon 11 Nonsense c.4474A>T p.K1492* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 4702A>T
chr13:32912966:+ chr13:32338829:+
Exon 11 Deletion c.4478_4481del4 5 - Definitely pathogenic >0.99 Tavtigian (1996) Nat Genet 12; 333
BIC nucleic acid #: 4706_4709del4
chr13:32912970-32912973 (+) chr13:32338833-32338836 (+)
Exon 11 Insertion c.4480dupA 5 - Definitely pathogenic >0.99 Verhoog (1999) J Clin Oncol 17; 3396
BIC nucleic acid #: 4708dupA
chr13:32912972-32912973 (+) chr13:32338835-32338836 (+)
Exon 11 Deletion c.4487delC 5 - Definitely pathogenic >0.99 Cao (2015) BMC C 16,
BIC nucleic acid #: 4715delC
chr13:32912979 (+) chr13:32338842 (+)
Exon 11 Deletion c.4533delA 5 - Definitely pathogenic >0.99 Drusedau (2013) EJHG 21, 1361
BIC nucleic acid #: 4761delA
chr13:32913025 (+) chr13:32338888 (+)
Exon 11 Deletion c.4535delG 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 4763delG
chr13:32913027 (+) chr13:32338890 (+)
Exon 11 Insertion c.4536_4539dup4 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 4764_4767dup4
chr13:32913031-32913032 (+) chr13:32338894-32338895 (+)
Exon 11 Deletion c.4544delA 5 - Definitely pathogenic >0.99 Steinmann (2001) Br J Cancer 85; 850
BIC nucleic acid #: 4772delA
chr13:32913036 (+) chr13:32338899 (+)
Exon 11 Insertion c.4544dupA 5 - Definitely pathogenic >0.99 Pritchard (2016) NEJM 375, 443
BIC nucleic acid #: 4772dupA
chr13:32913036-32913037 (+) chr13:32338899-32338900 (+)
Exon 11 Insertion c.4546dupA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 4774dupA
chr13:32913038-32913039 (+) chr13:32338901-32338902 (+)
Exon 11 Deletion c.4551_4554del4 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 4779_4782del4
chr13:32913043-32913046 (+) chr13:32338906-32338909 (+)
Exon 11 Deletion c.4552delG 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 4780delG
chr13:32913044 (+) chr13:32338907 (+)
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
chr13:32913044:+ chr13:32338907:+
Exon 11 Deletion c.4554delA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 4782delA
chr13:32913046 (+) chr13:32338909 (+)
Exon 11 Deletion c.4556delC 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 4784delC
chr13:32913048 (+) chr13:32338911 (+)
Exon 11 Deletion c.4563_4564delGT 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 4791_4792delGT
chr13:32913055-32913056 (+) chr13:32338918-32338919 (+)
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:
chr13:32913062:+ chr13:32338925:+
Exon 11 Deletion c.4570_4573del4 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 4798_4801del4
chr13:32913062-32913065 (+) chr13:32338925-32338928 (+)
Exon 11 Missense c.4585G>A p.G1529R 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32913077:+ chr13:32338940:+
Exon 11 Deletion c.4587delG 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 4815delG
chr13:32913079 (+) chr13:32338942 (+)
Exon 11 Nonsense c.4588A>T p.K1530* 5 - Definitely pathogenic >0.99 Couch (2015) JCO 33, 304
BIC nucleic acid #: 4816A>T
chr13:32913080:+ chr13:32338943:+
Exon 11 Deletion c.4593delA 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 4821delA
chr13:32913085 (+) chr13:32338948 (+)
Exon 11 Insertion c.4593dupA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 4821dupA
chr13:32913085-32913086 (+) chr13:32338948-32338949 (+)
Exon 11 Missense c.4609G>A p.E1537K 1 - Not pathogenic or of no clinical significance 0 Whiley PJ, et al., PLoS One, 9:e86836, 2014 Tavtigian SV et al., Hum Mutat, 29(11):1342-1354, 2008
BIC nucleic acid #: 4837G>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.004
  • Pathology:
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Products of LRs: 0.004
chr13:32913101:+ chr13:32338964:+
Exon 11 Deletion c.4631delA 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 4859delA
chr13:32913123 (+) chr13:32338986 (+)
Exon 11 Insertion c.4631dupA 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 4859dupA
chr13:32913123-32913124 (+) chr13:32338986-32338987 (+)
Exon 11 Deletion c.4638delT 5 - Definitely pathogenic >0.99 Jakubowska (2003) Eur J Hum Genet 11; 955
BIC nucleic acid #: 4866delT
chr13:32913130 (+) chr13:32338993 (+)
Exon 11 Insertion c.4638dupT 5 - Definitely pathogenic >0.99 Vaidyanathan (2009) J Biosci 34; 415
BIC nucleic acid #: 4866dupT
chr13:32913130-32913131 (+) chr13:32338993-32338994 (+)
Exon 11 Deletion c.4647_4650del4 5 - Definitely pathogenic >0.99 Plaschke (2000) J Med Genet 37; e17
BIC nucleic acid #: 4875_4878del4
chr13:32913139-32913142 (+) chr13:32339002-32339005 (+)
Exon 11 Nonsense c.4648G>T p.E1550* 5 - Definitely pathogenic >0.99 Hirsch (2004) Blood 103; 2554
BIC nucleic acid #: 4876G>T
chr13:32913140:+ chr13:32339003:+
Exon 11 Deletion c.4657_4658delAC 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 4885_4886delAC
chr13:32913149-32913150 (+) chr13:32339012-32339013 (+)
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
chr13:32913176:+ chr13:32339039:+
Exon 11 Insertion c.4691dupC 5 - Definitely pathogenic >0.99 Pritchard (2016) NEJM 375, 443
BIC nucleic acid #: 4919dupC
chr13:32913183-32913184 (+) chr13:32339046-32339047 (+)
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
chr13:32913190-32913191 (+) chr13:32339053-32339054 (+)
Exon 11 Deletion c.4712_4713delAG 5 - Definitely pathogenic >0.99 Lancaster (1996) Nat Genet 13; 238
BIC nucleic acid #: 4940_4941delAG
chr13:32913204-32913205 (+) chr13:32339067-32339068 (+)
Exon 11 Insertion c.4719dupT 5 - Definitely pathogenic >0.99 Santonocito (2017) BREAST 36, 74
BIC nucleic acid #: 4947dupT
chr13:32913211-32913212 (+) chr13:32339074-32339075 (+)
Exon 11 Nonsense c.4729G>T p.E1577* 5 - Definitely pathogenic >0.99 Couch (2015) JCO 33, 304
BIC nucleic acid #: 4957G>T
chr13:32913221:+ chr13:32339084:+
Exon 11 Deletion c.4731delA 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 4959delA
chr13:32913223 (+) chr13:32339086 (+)
Exon 11 Insertion c.4731dupA 5 - Definitely pathogenic >0.99 Ahmad (2012) Clin Genet 82; 594
BIC nucleic acid #: 4959dupA
chr13:32913223-32913224 (+) chr13:32339086-32339087 (+)
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
chr13:32913232-32913233 (+) chr13:32339095-32339096 (+)
Exon 11 Insertion c.4740_4741dupTG 5 - Definitely pathogenic >0.99 Carraro (2013) PLoS One 8; e57581
BIC nucleic acid #: 4968_4969dupTG
chr13:32913233-32913234 (+) chr13:32339096-32339097 (+)
Exon 11 Insertion c.4742_4743insTG 5 - Definitely pathogenic >0.99 Gallardo (2006) Breast Cancer Res Treat 95; 81
BIC nucleic acid #: 4970_4971insTG
chr13:32913234-32913235 (+) chr13:32339097-32339098 (+)
Exon 11 Deletion c.4744_4747del4 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 4972_4975del4
chr13:32913236-32913239 (+) chr13:32339099-32339102 (+)
Exon 11 Deletion c.4766delC 5 - Definitely pathogenic >0.99 Ahn (2007) Cancer Lett 245; 90
BIC nucleic acid #: 4994delC
chr13:32913258 (+) chr13:32339121 (+)
Exon 11 Nonsense c.4768A>T p.K1590* 5 - Definitely pathogenic >0.99 De Silva (2017) FAM CAN 16, 329
BIC nucleic acid #: 4996A>T
chr13:32913260:+ chr13:32339123:+
Exon 11 Deletion c.4769delA 5 - Definitely pathogenic >0.99 Konstantopoulou (2014) CLIN GENET 85, 36
BIC nucleic acid #: 4997delA
chr13:32913261 (+) chr13:32339124 (+)
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
chr13:32913266:+ chr13:32339129:+
Exon 11 Deletion c.4780delA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5008delA
chr13:32913272 (+) chr13:32339135 (+)
Exon 11 Deletion c.4787delA 5 - Definitely pathogenic >0.99 Siraj (2017) HUM GENET 136, 1431
BIC nucleic acid #: 5015delA
chr13:32913279 (+) chr13:32339142 (+)
Exon 11 Deletion c.4793delT 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 5021delT
chr13:32913285 (+) chr13:32339148 (+)
Exon 11 Deletion c.4797delT 5 - Definitely pathogenic >0.99 Bolufer (2005) Med Clin (Barc) 124; 10
BIC nucleic acid #: 5025delT
chr13:32913289 (+) chr13:32339152 (+)
Exon 11 Deletion c.4799delA 5 - Definitely pathogenic >0.99 Ng (2016) CLIN GENET 90, 315
BIC nucleic acid #: 5027delA
chr13:32913291 (+) chr13:32339154 (+)
Exon 11 Insertion c.4804_4805insT 5 - Definitely pathogenic >0.99 Santonocito (2017) BREAST 36, 74
BIC nucleic acid #: 5032_5033insT
chr13:32913296-32913297 (+) chr13:32339159-32339160 (+)
Exon 11 Deletion c.4808delA 5 - Definitely pathogenic >0.99 Esteves (2009) Braz J Med Biol Res 42; 453
BIC nucleic acid #: 5036delA
chr13:32913300 (+) chr13:32339163 (+)
Exon 11 Insertion c.4808dupA 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 5036dupA
chr13:32913300-32913301 (+) chr13:32339163-32339164 (+)
Exon 11 Indel c.4821_4823delTGAinsC 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 5049_5051delTGAinsC
chr13:32913313-32913315 (+) chr13:32339176-32339178 (+)
Exon 11 Insertion c.4828dupG 5 - Definitely pathogenic >0.99 Al-Mulla (2009) J Clin Pathol 62; 350
BIC nucleic acid #: 5056dupG
chr13:32913320-32913321 (+) chr13:32339183-32339184 (+)
Exon 11 Deletion c.4829_4830delTG 5 - Definitely pathogenic >0.99 Ahn (2007) Cancer Lett 245; 90
BIC nucleic acid #: 5057_5058delTG
chr13:32913321-32913322 (+) chr13:32339184-32339185 (+)
Exon 11 Deletion c.4845_4846delCT 5 - Definitely pathogenic >0.99 Machackova (2001) Hum Mutat 18; 545
BIC nucleic acid #: 5073_5074delCT
chr13:32913337-32913338 (+) chr13:32339200-32339201 (+)
Exon 11 Deletion c.4848_4849delAA 5 - Definitely pathogenic >0.99 Schrader (2012) Obstet Gynecol 120; 235
BIC nucleic acid #: 5076_5077delAA
chr13:32913340-32913341 (+) chr13:32339203-32339204 (+)
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
chr13:32913351:+ chr13:32339214:+
Exon 11 Deletion c.4876_4877delAA 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 5104_5107delAA
chr13:32913368-32913369 (+) chr13:32339231-32339232 (+)
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
chr13:32913381:+ chr13:32339244:+
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
chr13:32913381:+ chr13:32339244:+
Exon 11 Deletion c.4894_4895delAG 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 5122_5123delAG
chr13:32913386-32913387 (+) chr13:32339249-32339250 (+)
Exon 11 Insertion c.4914dupA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 5142dupA
chr13:32913406-32913407 (+) chr13:32339269-32339270 (+)
Exon 11 Deletion c.4918_4921del4 5 - Definitely pathogenic >0.99 Barber (2005) Br J Haematol 130; 796
BIC nucleic acid #: 5146_5149del4
chr13:32913410-32913413 (+) chr13:32339273-32339276 (+)
Exon 11 Deletion c.4926_4935del10 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5154_5163del10
chr13:32913418-32913427 (+) chr13:32339281-32339290 (+)
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:
chr13:32913420:+ chr13:32339283:+
Exon 11 Deletion c.4935delA 5 - Definitely pathogenic >0.99 Sermijn (2004) J Med Genet 41; e23
BIC nucleic acid #: 5163delA
chr13:32913427 (+) chr13:32339290 (+)
Exon 11 Deletion c.4936_4939del4 5 - Definitely pathogenic >0.99 Wagner (2004) Blood 103; 3226
BIC nucleic acid #: 5164_5167del4
chr13:32913428-32913431 (+) chr13:32339291-32339294 (+)
Exon 11 Insertion c.4939dupA 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 5167dupA
chr13:32913431-32913432 (+) chr13:32339294-32339295 (+)
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
chr13:32913432-32913433 (+) chr13:32339295-32339296 (+)
Exon 11 Deletion c.4943delC 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 5171delC
chr13:32913435 (+) chr13:32339298 (+)
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
chr13:32913439-32913440 (+) chr13:32339302-32339303 (+)
Exon 11 Deletion c.4952delC 5 - Definitely pathogenic >0.99 Sinilnikova (1999) Int J Cancer 83; 325
BIC nucleic acid #: 5180delC
chr13:32913444 (+) chr13:32339307 (+)
Exon 11 Nonsense c.4962T>A p.C1654* 5 - Definitely pathogenic >0.99 Carraro (2013) PLoS One 8; e57581
BIC nucleic acid #: 5190T>A
chr13:32913454:+ chr13:32339317:+
Exon 11 Deletion c.4963delT 5 - Definitely pathogenic >0.99 Solano (2016) ONCTARG 8, 60487
BIC nucleic acid #: 5191delT
chr13:32913455 (+) chr13:32339318 (+)
Exon 11 Insertion c.4964dupA 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 5192dupA
chr13:32913456-32913457 (+) chr13:32339319-32339320 (+)
Exon 11 Deletion c.4965delC 5 - Definitely pathogenic >0.99 Norquist (2011) J Clin Oncol 29; 3008
BIC nucleic acid #: 5193delC
chr13:32913457 (+) chr13:32339320 (+)
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
chr13:32913457:+ chr13:32339320:+
Exon 11 Nonsense c.4965C>G p.Y1655* 5 - Definitely pathogenic >0.99 Ramus (2007) Hum Mutat 28; 1207
BIC nucleic acid #: 5193C>G
chr13:32913457:+ chr13:32339320:+
Exon 11 Deletion c.4981delT 5 - Definitely pathogenic >0.99 Kote-Jarai (2011) Br J Cancer 105; 1230
BIC nucleic acid #: 5209delT
chr13:32913473 (+) chr13:32339336 (+)
Exon 11 Deletion c.4987_4990del4 5 - Definitely pathogenic >0.99 King (2001) JAMA 286; 2251
BIC nucleic acid #: 5215_5218del4
chr13:32913479-32913482 (+) chr13:32339342-32339345 (+)
Exon 11 Insertion c.4999dupT 5 - Definitely pathogenic >0.99 Valarmathi (2004) Hum Mutat 23; 205
BIC nucleic acid #: 5227dupT
chr13:32913491-32913492 (+) chr13:32339354-32339355 (+)
Exon 11 Insertion c.5014dupT 5 - Definitely pathogenic >0.99 Valarmathi (2004) Hum Mutat 23; 205
BIC nucleic acid #: 5242dupT
chr13:32913506-32913507 (+) chr13:32339369-32339370 (+)
Exon 11 Deletion c.5035delA 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 5263delA
chr13:32913527 (+) chr13:32339390 (+)
Exon 11 Deletion c.5042_5043delTG 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 5270_5271delTG
chr13:32913534-32913535 (+) chr13:32339397-32339398 (+)
Exon 11 Deletion c.5045delG 5 - Definitely pathogenic >0.99 King (2001) JAMA 286; 2251
BIC nucleic acid #: 5273delG
chr13:32913537 (+) chr13:32339400 (+)
Exon 11 Nonsense c.5054C>G p.S1685* 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 5282C>G
chr13:32913546:+ chr13:32339409:+
Exon 11 Indel c.5065_5066delGCinsAAA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5293_5294delGCinsAAA
chr13:32913557-32913558 (+) chr13:32339420-32339421 (+)
Exon 11 Missense c.5070A>C p.K1690N 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32913562:+ chr13:32339425:+
Exon 11 Nonsense c.5071A>T p.K1691* 5 - Definitely pathogenic >0.99 Couch (2015) JCO 33, 304
BIC nucleic acid #: 5299A>T
chr13:32913563:+ chr13:32339426:+
Exon 11 Insertion c.5073dupA 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 5301dupA
chr13:32913565-32913566 (+) chr13:32339428-32339429 (+)
Exon 11 Insertion c.5086_5087insA 5 - Definitely pathogenic >0.99 Papi (2009) Breast Cancer Res Treat 117; 497
BIC nucleic acid #: 5314_5315insA
chr13:32913578-32913579 (+) chr13:32339441-32339442 (+)
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
chr13:32913593:+ chr13:32339456:+
Exon 11 Nonsense c.5107G>T p.E1703* 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5335G>T
chr13:32913599:+ chr13:32339462:+
Exon 11 Deletion c.5115_5119del5 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 5343_5347del5
chr13:32913607-32913611 (+) chr13:32339470-32339474 (+)
Exon 11 Indel c.5115_5119del5insG 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 5343_5347del5insG
chr13:32913607-32913611 (+) chr13:32339470-32339474 (+)
Exon 11 Deletion c.5116_5119del4 5 - Definitely pathogenic >0.99 Infante (2006) J Hum Genet 51; 611
BIC nucleic acid #: 5344_5347del4
chr13:32913608-32913611 (+) chr13:32339471-32339474 (+)
Exon 11 Deletion c.5130_5133del4 5 - Definitely pathogenic >0.99 Friedman (1997) Am J Hum Genet 60; 313
BIC nucleic acid #: 5358_5361del4
chr13:32913622-32913625 (+) chr13:32339485-32339488 (+)
Exon 11 Deletion c.5131delG 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 5359delG
chr13:32913623 (+) chr13:32339486 (+)
Exon 11 Deletion c.5132_5135del4 5 - Definitely pathogenic >0.99 Kote-Jarai (2007) Cancer Lett 247; 259
BIC nucleic acid #: 5360_5363del4
chr13:32913624-32913627 (+) chr13:32339487-32339490 (+)
Exon 11 Deletion c.5141_5144del4 5 - Definitely pathogenic >0.99 Salgado (2005) Oncol Rep 14; 85
BIC nucleic acid #: 5369_5372del4
chr13:32913633-32913636 (+) chr13:32339496-32339499 (+)
Exon 11 Deletion c.5146_5149del4 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 5374_5377del4
chr13:32913638-32913641 (+) chr13:32339501-32339504 (+)
Exon 11 Deletion c.5157_5161del5 5 - Definitely pathogenic >0.99 Schroeder (2015) BCRT 152, 129
BIC nucleic acid #: 5385_5389del5
chr13:32913649-32913653 (+) chr13:32339512-32339516 (+)
Exon 11 Insertion c.5158dupT 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol epub; epub
BIC nucleic acid #: 5386dupT
chr13:32913650-32913651 (+) chr13:32339513-32339514 (+)
Exon 11 Nonsense c.5159C>A p.S1720* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 5387C>A
chr13:32913651:+ chr13:32339514:+
Exon 11 Deletion c.5164_5165delAG 5 - Definitely pathogenic >0.99 Hakansson (1997) Am J Hum Genet 60; 1068
BIC nucleic acid #: 5392_5393delAG
chr13:32913656-32913657 (+) chr13:32339519-32339520 (+)
Exon 11 Insertion c.5164_5168dup5 5 - Definitely pathogenic >0.99 Rodriguez (2008) Fam Cancer 7; 275
BIC nucleic acid #: 5392_5396dup5
chr13:32913660-32913661 (+) chr13:32339523-32339524 (+)
Exon 11 Deletion c.5171delT 5 - Definitely pathogenic >0.99 Zhang (2012) Breast Cancer Res Treat 132; 421
BIC nucleic acid #: 5399delT
chr13:32913663 (+) chr13:32339526 (+)
Exon 11 Insertion c.5171_5172dupTA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12, e0170843
BIC nucleic acid #: 5399_5400dupTA
chr13:32913664-32913665 (+) chr13:32339527-32339528 (+)
Exon 11 Deletion c.5180delA 5 - Definitely pathogenic >0.99 De Leeneer (2011) Hum Mutat 32; 335
BIC nucleic acid #: 5408delA
chr13:32913672 (+) chr13:32339535 (+)
Exon 11 Insertion c.5189dupA 5 - Definitely pathogenic >0.99 Ruiz (2014) BMRI 2014, 542541
BIC nucleic acid #: 5417dupA
chr13:32913681-32913682 (+) chr13:32339544-32339545 (+)
Exon 11 Insertion c.5197dupT 5 - Definitely pathogenic >0.99 Caux-Moncoutier (2010) Hum Mutat 32; 325
BIC nucleic acid #: 5425dupT
chr13:32913689-32913690 (+) chr13:32339552-32339553 (+)
Exon 11 Missense c.5198C>T p.S1733F 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32913690:+ chr13:32339553:+
Exon 11 Nonsense c.5206C>T p.Q1736* 5 - Definitely pathogenic >0.99 Zhong (2016) PLOS ONE 11, e0156789
BIC nucleic acid #: 5434C>T
chr13:32913698:+ chr13:32339561:+
Exon 11 Deletion c.5207_5208delAA 5 - Definitely pathogenic >0.99 Sugano (2008) Cancer Sci 99; 1967
BIC nucleic acid #: 5435_5436delAA
chr13:32913699-32913700 (+) chr13:32339562-32339563 (+)
Exon 11 Deletion c.5208delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5436delA
chr13:32913700 (+) chr13:32339563 (+)
Exon 11 Deletion c.5213_5216del4 5 - Definitely pathogenic >0.99 Montagna (2002) Int J Cancer 98; 732
BIC nucleic acid #: 5441_5444del4
chr13:32913705-32913708 (+) chr13:32339568-32339571 (+)
Exon 11 Deletion c.5217_5220del4 5 - Definitely pathogenic >0.99 Stuppia (2003) Hum Mutat 22; 178
BIC nucleic acid #: 5445_5448del4
chr13:32913709-32913712 (+) chr13:32339572-32339575 (+)
Exon 11 Deletion c.5217_5221del5 5 - Definitely pathogenic >0.99 Hakansson (1997) Am J Hum Genet 60; 1068
BIC nucleic acid #: 5445_5449del5
chr13:32913709-32913713 (+) chr13:32339572-32339576 (+)
Exon 11 Deletion c.5217_5223del7 5 - Definitely pathogenic >0.99 Malone (2000) Cancer 88; 1393
BIC nucleic acid #: 5445_5451del7
chr13:32913709-32913715 (+) chr13:32339572-32339578 (+)
Exon 11 Deletion c.5217_5224del8 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 5445_5452del8
chr13:32913709-32913716 (+) chr13:32339572-32339579 (+)
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
chr13:32913710-32913715 (+) chr13:32339573-32339578 (+)
Exon 11 Insertion c.5219dupT 5 - Definitely pathogenic >0.99 Smith (2012) Proc Biol Sci 279; 1389
BIC nucleic acid #: 5447dupT
chr13:32913711-32913712 (+) chr13:32339574-32339575 (+)
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
chr13:32913720-32913725 (+) chr13:32339583-32339588 (+)
Exon 11 Deletion c.5233delA 5 - Definitely pathogenic >0.99 Seifert (2016) CCR epub, epub
BIC nucleic acid #: 5461delA
chr13:32913725 (+) chr13:32339588 (+)
Exon 11 Insertion c.5237dupC 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 5465dupC
chr13:32913729-32913730 (+) chr13:32339592-32339593 (+)
Exon 11 Insertion c.5238dupT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 5466dupT
chr13:32913730-32913731 (+) chr13:32339593-32339594 (+)
Exon 11 Insertion c.5239_5240insT 5 - Definitely pathogenic >0.99 Balabas (2010) Fam Cancer 9; 267
BIC nucleic acid #: 5467_5468insT
chr13:32913731-32913732 (+) chr13:32339594-32339595 (+)
Exon 11 Insertion c.5241_5242insTA 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 5469_5470insTA
chr13:32913733-32913734 (+) chr13:32339596-32339597 (+)
Exon 11 Deletion c.5244delC 5 - Definitely pathogenic >0.99 Berzina (2013) BMC Med Genet 14;
BIC nucleic acid #: 5472delC
chr13:32913736 (+) chr13:32339599 (+)
Exon 11 Deletion c.5250delC 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 5478delC
chr13:32913742 (+) chr13:32339605 (+)
Exon 11 Deletion c.5254delC 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5482delC
chr13:32913746 (+) chr13:32339609 (+)
Exon 11 Deletion c.5270_5273del4 5 - Definitely pathogenic >0.99 Becker (2012) Breast Cancer Res Treat 135; 167
BIC nucleic acid #: 5498_5501del4
chr13:32913762-32913765 (+) chr13:32339625-32339628 (+)
Exon 11 Nonsense c.5271T>A p.Y1757* 5 - Definitely pathogenic >0.99 Siraj (2017) HUM GENET 136, 1431
BIC nucleic acid #: 5499T>A
chr13:32913763:+ chr13:32339626:+
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:
chr13:32913770:+ chr13:32339633:+
Exon 11 Nonsense c.5279C>G p.S1760* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 5507C>G
chr13:32913771:+ chr13:32339634:+
Exon 11 Nonsense c.5281G>T p.G1761* 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 5509G>T
chr13:32913773:+ chr13:32339636:+
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
chr13:32913778:+ chr13:32339641:+
Exon 11 Deletion c.5290_5291delTC 5 - Definitely pathogenic >0.99 Reedy (2002) Gynecol Oncol 85; 255
BIC nucleic acid #: 5518_5517delTC
chr13:32913782-32913783 (+) chr13:32339645-32339646 (+)
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
chr13:32913783:+ chr13:32339646:+
Exon 11 Insertion c.5297dupA 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 5525dupA
chr13:32913789-32913790 (+) chr13:32339652-32339653 (+)
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
chr13:32913791-32913799 (+) chr13:32339654-32339662 (+)
Exon 11 Deletion c.5303_5304delTT 5 - Definitely pathogenic >0.99 Gayther (2000) Cancer Res 60; 4513
BIC nucleic acid #: 5531_5532delTT
chr13:32913795-32913796 (+) chr13:32339658-32339659 (+)
Exon 11 Missense c.5312G>A p.G1771D 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32913804:+ chr13:32339667:+
Exon 11 Deletion c.5350_5351delAA 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 5578_5579delAA
chr13:32913842-32913843 (+) chr13:32339705-32339706 (+)
Exon 11 Indel c.5350_5351delAAinsT 5 - Definitely pathogenic >0.99 Infante (2006) J Hum Genet 51; 611
BIC nucleic acid #: 5578_5579delAAinsT
chr13:32913842-32913843 (+) chr13:32339705-32339706 (+)
Exon 11 Deletion c.5351delA 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 5579delA
chr13:32913843 (+) chr13:32339706 (+)
Exon 11 Insertion c.5351dupA 5 - Definitely pathogenic >0.99 Verhoog (1999) J Clin Oncol 17; 3396
BIC nucleic acid #: 5579dupA
chr13:32913843-32913844 (+) chr13:32339706-32339707 (+)
Exon 11 Deletion c.5352delC 5 - Definitely pathogenic >0.99 Wong-Brown (2015) BCRT 150, 71
BIC nucleic acid #: 5580delC
chr13:32913844 (+) chr13:32339707 (+)
Exon 11 Deletion c.5353delA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 5581delA
chr13:32913845 (+) chr13:32339708 (+)
Exon 11 Deletion c.5353_5354delAC 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 5581_5582delAC
chr13:32913845-32913846 (+) chr13:32339708-32339709 (+)
Exon 11 Insertion c.5355dupT 5 - Definitely pathogenic >0.99 Peixoto (2006) Fam Cancer 5; 379
BIC nucleic acid #: 5583dupT
chr13:32913847-32913848 (+) chr13:32339710-32339711 (+)
Exon 11 Insertion c.5362dupT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 5590dupT
chr13:32913854-32913855 (+) chr13:32339717-32339718 (+)
Exon 11 Insertion c.5364dupC 5 - Definitely pathogenic >0.99 Pritchard (2016) NEJM 375, 443
BIC nucleic acid #: 5592dupC
chr13:32913856-32913857 (+) chr13:32339719-32339720 (+)
Exon 11 Deletion c.5380delG 5 - Definitely pathogenic >0.99 Zuradelli (2010) Breast Cancer Res Treat 124; 251
BIC nucleic acid #: 5608delG
chr13:32913872 (+) chr13:32339735 (+)
Exon 11 Deletion c.5386_5387delGA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 5614_5615delGA
chr13:32913878-32913879 (+) chr13:32339741-32339742 (+)
Exon 11 Deletion c.5388delT 5 - Definitely pathogenic >0.99 Rajkumar (2015) APJCP 16, 5211
BIC nucleic acid #: 5616delT
chr13:32913880 (+) chr13:32339743 (+)
Exon 11 Deletion c.5389_5390delGC 5 - Definitely pathogenic >0.99 Couch (1996) Nat Genet 13; 123
BIC nucleic acid #: 5617_5618delGC
chr13:32913881-32913882 (+) chr13:32339744-32339745 (+)
Exon 11 Deletion c.5410_5411delGT 5 - Definitely pathogenic >0.99 Marroni (2004) Eur J Hum Genet 12; 899
BIC nucleic acid #: 5638_5639delGT
chr13:32913902-32913903 (+) chr13:32339765-32339766 (+)
Exon 11 Deletion c.5422_5423delAT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 5650_5651delAT
chr13:32913914-32913915 (+) chr13:32339777-32339778 (+)
Exon 11 Deletion c.5433_5436del4 5 - Definitely pathogenic >0.99 Novakovic (2012) Int J Oncol epub; epub
BIC nucleic acid #: 5661_5664del4
chr13:32913925-32913928 (+) chr13:32339788-32339791 (+)
Exon 11 Nonsense c.5434G>T p.E1812* 5 - Definitely pathogenic >0.99 Litton (2012) Cancer 118; 321
BIC nucleic acid #: 5662G>T
chr13:32913926:+ chr13:32339789:+
Exon 11 Deletion c.5439delT 5 - Definitely pathogenic >0.99 Jara (2006) Cancer Genet Cytogenet 166; 36
BIC nucleic acid #: 5667delT
chr13:32913931 (+) chr13:32339794 (+)
Exon 11 Deletion c.5454delA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5682delA
chr13:32913946 (+) chr13:32339809 (+)
Exon 11 Missense c.5455C>T p.P1819S 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32913947:+ chr13:32339810:+
Exon 11 Insertion c.5466dupT 5 - Definitely pathogenic >0.99 Vaziri (2000) Hum Mutat 17; 74
BIC nucleic acid #: 5694dupT
chr13:32913958-32913959 (+) chr13:32339821-32339822 (+)
Exon 11 Deletion c.5470_5471delAA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 5698_5699delAA
chr13:32913962-32913963 (+) chr13:32339825-32339826 (+)
Exon 11 Deletion c.5471delA 5 - Definitely pathogenic >0.99 Cho (2011) Surg Today 41; 1665
BIC nucleic acid #: 5699delA
chr13:32913963 (+) chr13:32339826 (+)
Exon 11 Insertion c.5471dupA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5699dupA
chr13:32913963-32913964 (+) chr13:32339826-32339827 (+)
Exon 11 Deletion c.5482_5486del5 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 5710_5714del5
chr13:32913974-32913978 (+) chr13:32339837-32339841 (+)
Exon 11 Deletion c.5495delC 5 - Definitely pathogenic >0.99 Cao (2015) BMC C 16,
BIC nucleic acid #: 5723delC
chr13:32913987 (+) chr13:32339850 (+)
Exon 11 Deletion c.5542delA 5 - Definitely pathogenic >0.99 Torres-Mejia (2015) CEBP 24, 498
BIC nucleic acid #: 5770delA
chr13:32914034 (+) chr13:32339897 (+)
Exon 11 Deletion c.5557delT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 5785delT
chr13:32914049 (+) chr13:32339912 (+)
Exon 11 Deletion c.5560_5561delGT 5 - Definitely pathogenic >0.99 Beristain (2007) Breast Cancer Res Treat 106; 255
BIC nucleic acid #: 5788_5789delGT
chr13:32914052-32914053 (+) chr13:32339915-32339916 (+)
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
chr13:32914061:+ chr13:32339924:+
Exon 11 Deletion c.5569_5573del5 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 5797_5801del5
chr13:32914061-32914065 (+) chr13:32339924-32339928 (+)
Exon 11 Deletion c.5576_5579del4 5 - Definitely pathogenic >0.99 Foster (1996) Cancer Res 56; 3622
BIC nucleic acid #: 5804_5807del4
chr13:32914068-32914071 (+) chr13:32339931-32339934 (+)
Exon 11 Deletion c.5577_5580del4 5 - Definitely pathogenic >0.99 Piek (2003) Fam Cancer 2; 73
BIC nucleic acid #: 5805_5808del4
chr13:32914069-32914072 (+) chr13:32339932-32339935 (+)
Exon 11 Nonsense c.5578A>T p.K1860* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 5806A>T
chr13:32914070:+ chr13:32339933:+
Exon 11 Deletion c.5580_5584del5 5 - Definitely pathogenic >0.99 Syrjakoski (2004) Neoplasia 6; 541
BIC nucleic acid #: 5808_5812del5
chr13:32914072-32914076 (+) chr13:32339935-32339939 (+)
Exon 11 Deletion c.5583delA p.V1862* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 5811delA
chr13:32914075 (+) chr13:32339938 (+)
Exon 11 Insertion c.5583dupA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5811dupA
chr13:32914075-32914076 (+) chr13:32339938-32339939 (+)
Exon 11 Deletion c.5585_5588del4 5 - Definitely pathogenic >0.99 Pritchard (2016) NEJM 375, 443
BIC nucleic acid #: 5813_5816del4
chr13:32914077-32914080 (+) chr13:32339940-32339943 (+)
Exon 11 Deletion c.5592_5593delCA 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 5820_5821delCA
chr13:32914084-32914085 (+) chr13:32339947-32339948 (+)
Exon 11 Deletion c.5595_5596delAT 5 - Definitely pathogenic >0.99 Ligtenberg (1999) Br J Cancer 79; 1475
BIC nucleic acid #: 5823_5824delAT
chr13:32914087-32914088 (+) chr13:32339950-32339951 (+)
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
chr13:32914101-32914102 (+) chr13:32339964-32339965 (+)
Exon 11 Nonsense c.5614A>T p.K1872* 5 - Definitely pathogenic >0.99 Meyer (2003) Hum Mutat 22; 259
BIC nucleic acid #: 5842A>T
chr13:32914106:+ chr13:32339969:+
Exon 11 Deletion c.5616_5620del5 5 - Definitely pathogenic >0.99 Pal (2004) Cancer Epidemiol Biomarkers Prev 13; 1794
BIC nucleic acid #: 5844_5848del5
chr13:32914108-32914112 (+) chr13:32339971-32339975 (+)
Exon 11 Deletion c.5621_5624del4 5 - Definitely pathogenic >0.99 Serova (1997) Am J Hum Genet 60; 486
BIC nucleic acid #: 5849_5852del4
chr13:32914113-32914116 (+) chr13:32339976-32339979 (+)
Exon 11 Deletion c.5622_5628del7 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 5850_5856del7
chr13:32914114-32914120 (+) chr13:32339977-32339983 (+)
Exon 11 Deletion c.5624delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5852delA
chr13:32914116 (+) chr13:32339979 (+)
Exon 11 Nonsense c.5626G>T p.E1876* 5 - Definitely pathogenic >0.99 Phelan (1996) Nat Genet 13; 120
BIC nucleic acid #: 5854G>T
chr13:32914118:+ chr13:32339981:+
Exon 11 Deletion c.5631delC 5 - Definitely pathogenic >0.99 Torres-Mejia (2015) CEBP 24, 498
BIC nucleic acid #: 5859delC
chr13:32914123 (+) chr13:32339986 (+)
Exon 11 Deletion c.5641_5644del4 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 5869_5872del4
chr13:32914133-32914136 (+) chr13:32339996-32339999 (+)
Exon 11 Nonsense c.5645C>A p.S1882* 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 5873C>A
chr13:32914137:+ chr13:32340000:+
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
chr13:32914137:+ chr13:32340000:+
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
chr13:32914142-32914151 (+) chr13:32340005-32340014 (+)
Exon 11 Insertion c.5653dupT 5 - Definitely pathogenic >0.99 Peixoto (2015) CLIN GENET 88, 41
BIC nucleic acid #: 5881dupT
chr13:32914145-32914146 (+) chr13:32340008-32340009 (+)
Exon 11 Nonsense c.5655C>A p.C1885* 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 5883C>A
chr13:32914147:+ chr13:32340010:+
Exon 11 Nonsense c.5656C>T p.Q1886* 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 5884C>T
chr13:32914148:+ chr13:32340011:+
Exon 11 Deletion c.5665delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 5893delA
chr13:32914157 (+) chr13:32340020 (+)
Exon 11 Deletion c.5669_5673del5 5 - Definitely pathogenic >0.99 Solano (2016) ONCTARG 8, 60487
BIC nucleic acid #: 5897_5901del5
chr13:32914161-32914165 (+) chr13:32340024-32340028 (+)
Exon 11 Deletion c.5675delG 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 5903delG
chr13:32914167 (+) chr13:32340030 (+)
Exon 11 Insertion c.5681dupA 5 - Definitely pathogenic >0.99 Edwards (2001) Hum Mutat 17; 220
BIC nucleic acid #: 5909dupA
chr13:32914173-32914174 (+) chr13:32340036-32340037 (+)
Exon 11 Nonsense c.5682C>A p.Y1894* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 5910C>A
chr13:32914174:+ chr13:32340037:+
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
chr13:32914174:+ chr13:32340037:+
Exon 11 Deletion c.5692delG 5 - Definitely pathogenic >0.99 Churpek (2014) BCRT epub, epub
BIC nucleic acid #: 5920delG
chr13:32914184 (+) chr13:32340047 (+)
Exon 11 Insertion c.5696dupA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 5924dupA
chr13:32914188-32914189 (+) chr13:32340051-32340052 (+)
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
chr13:32914191:+ chr13:32340054:+
Exon 11 Nonsense c.5699C>G p.S1900* 5 - Definitely pathogenic >0.99 Yang (2015) PLOS ONE 10, e0125571
BIC nucleic acid #: 5927C>G
chr13:32914191:+ chr13:32340054:+
Exon 11 Deletion c.5701_5714del14 p.Glu1901* 5 - Definitely pathogenic >0.99 Janavicius (2014) CG 207, 195
BIC nucleic acid #: 5929_5942del14
chr13:32914193-32914206 (+) chr13:32340056-32340069 (+)
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:
chr13:32914202:+ chr13:32340065:+
Exon 11 Missense c.5714A>G p.H1905R 2 - Likely not pathogenic or of little clinical significance 0.003 Whiley PJ, et al., PLoS One, 9:e86836, 2014 Tavtigian SV et al., Hum Mutat, 29(11):1342-1354, 2008
BIC nucleic acid #: 5942A>G
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.16
  • Pathology:
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Products of LRs: 0.16
chr13:32914206:+ chr13:32340069:+
Exon 11 Insertion c.5715dupT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 5943dupT
chr13:32914207-32914208 (+) chr13:32340070-32340071 (+)
Exon 11 Deletion c.5720_5723del4 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 5948_5949del4
chr13:32914212-32914215 (+) chr13:32340075-32340078 (+)
Exon 11 Deletion c.5722_5723delCT 5 - Definitely pathogenic >0.99 Wooster (1995) Nature 378; 789
BIC nucleic acid #: 5950_5951delCT
chr13:32914214-32914215 (+) chr13:32340077-32340078 (+)
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
chr13:32914226:+ chr13:32340089:+
Exon 11 Nonsense c.5739T>A p.C1913* 5 - Definitely pathogenic >0.99 Hadjisavvas (2003) Hum Mutat 21; 171
BIC nucleic acid #: 5967T>A
chr13:32914231:+ chr13:32340094:+
Exon 11 Deletion c.5747delA 5 - Definitely pathogenic >0.99 De Silva (2017) FAM CAN 16, 329
BIC nucleic acid #: 5975delA
chr13:32914239 (+) chr13:32340102 (+)
Exon 11 Missense c.5752C>T p.H1918Y 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32914244:+ chr13:32340107:+
Exon 11 Deletion c.5754_5755delTA 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 5982_5983delTA
chr13:32914246-32914247 (+) chr13:32340109-32340110 (+)
Exon 11 Deletion c.5762_5772del11 5 - Definitely pathogenic >0.99 Siraj (2017) HUM GENET 136, 1431
BIC nucleic acid #: 5990_6000del11
chr13:32914254-32914264 (+) chr13:32340117-32340127 (+)
Exon 11 Deletion c.5763delT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 5991delT
chr13:32914255 (+) chr13:32340118 (+)
Exon 11 Insertion c.5763dupT 5 - Definitely pathogenic >0.99 Pohlreich (2005) Breast Cancer Res 7; R728
BIC nucleic acid #: 5991dupT
chr13:32914255-32914256 (+) chr13:32340118-32340119 (+)
Exon 11 Deletion c.5771_5774del4 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 5999_6002del4
chr13:32914263-32914266 (+) chr13:32340126-32340129 (+)
Exon 11 Deletion c.5774_5777del4 5 - Definitely pathogenic >0.99 Shiri-Sverdlov (2000) Hum Mutat 16; 491
BIC nucleic acid #: 6002_6005del4
chr13:32914266-32914269 (+) chr13:32340129-32340132 (+)
Exon 11 Deletion c.5778delT 5 - Definitely pathogenic >0.99 Dean (2015) GIG SC 4,
BIC nucleic acid #: 6006delT
chr13:32914270 (+) chr13:32340133 (+)
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
chr13:32914274:+ chr13:32340137:+
Exon 11 Missense c.5785A>G p.I1929V 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32914277:+ chr13:32340140:+
Exon 11 Deletion c.5789delT 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 6017delT
chr13:32914281 (+) chr13:32340144 (+)
Exon 11 Nonsense c.5789T>A p.L1930* 5 - Definitely pathogenic >0.99 Capalbo (2006) Ann Oncol 17S7; vii34
BIC nucleic acid #: 6017T>A
chr13:32914281:+ chr13:32340144:+
Exon 11 Nonsense c.5791C>T p.Q1931* 5 - Definitely pathogenic >0.99 Pal (2005) Cancer 104; 2807
BIC nucleic acid #: 6019C>T
chr13:32914283:+ chr13:32340146:+
Exon 11 Deletion c.5795_5799del5 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 6023_6027del5
chr13:32914287-32914291 (+) chr13:32340150-32340154 (+)
Exon 11 Deletion c.5796_5797delTA 5 - Definitely pathogenic >0.99 Armakolas (2001) Hum Mutat 19; 81
BIC nucleic acid #: 6024_6025delTA
chr13:32914288-32914289 (+) chr13:32340151-32340152 (+)
Exon 11 Deletion c.5799_5800delCC 5 - Definitely pathogenic >0.99 Fries (2002) Mil Med 167; 99
BIC nucleic acid #: 6027_6028delCC
chr13:32914291-32914292 (+) chr13:32340154-32340155 (+)
Exon 11 Deletion c.5799_5802del4 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6027_6030del4
chr13:32914291-32914294 (+) chr13:32340154-32340157 (+)
Exon 11 Deletion c.5804delA 5 - Definitely pathogenic >0.99 Maillet (2006) Cancer Genet Cytogenet 169; 62
BIC nucleic acid #: 6032delA
chr13:32914296 (+) chr13:32340159 (+)
Exon 11 Deletion c.5806_5807delAT 5 - Definitely pathogenic >0.99 Couch (2015) JCO 33, 304
BIC nucleic acid #: 6034_6035delAT
chr13:32914298-32914299 (+) chr13:32340161-32340162 (+)
Exon 11 Deletion c.5810_5811delCT 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 6038_6039delCT
chr13:32914302-32914303 (+) chr13:32340165-32340166 (+)
Exon 11 Deletion c.5820_5833del14 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6048_6061del14
chr13:32914312-32914325 (+) chr13:32340175-32340188 (+)
Exon 11 Deletion c.5823delA 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 6051delA
chr13:32914315 (+) chr13:32340178 (+)
Exon 11 Deletion c.5828delC 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 6056delC
chr13:32914320 (+) chr13:32340183 (+)
Exon 11 Insertion c.5836_5837insA 5 - Definitely pathogenic >0.99 Foster (1996) Cancer Res 56; 3622
BIC nucleic acid #: 6064_6065insA
chr13:32914328-32914329 (+) chr13:32340191-32340192 (+)
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
chr13:32914335-32914336 (+) chr13:32340198-32340199 (+)
Exon 11 Deletion c.5846delA 5 - Definitely pathogenic >0.99 Siraj (2017) HUM GENET 136, 1431
BIC nucleic acid #: 6074delA
chr13:32914338 (+) chr13:32340201 (+)
Exon 11 Deletion c.5851_5854del4 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 6079_6082del4
chr13:32914343-32914346 (+) chr13:32340206-32340209 (+)
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
chr13:32914346-32914347 (+) chr13:32340209-32340210 (+)
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
chr13:32914349:+ chr13:32340212:+
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
chr13:32914356:+ chr13:32340219:+
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
chr13:32914356:+ chr13:32340219:+
Exon 11 Insertion c.5869dupA 5 - Definitely pathogenic >0.99 Hernan (2015) CLTO epub, epub
BIC nucleic acid #: 6097dupA
chr13:32914361-32914362 (+) chr13:32340224-32340225 (+)
Exon 11 Deletion c.5891delA 5 - Definitely pathogenic >0.99 de Juan (2009) Breast Cancer Res Treat 115; 405
BIC nucleic acid #: 6119delA
chr13:32914383 (+) chr13:32340246 (+)
Exon 11 Missense c.5896C>T p.H1966Y 3 - Uncertain 0.05 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:
chr13:32914388:+ chr13:32340251:+
Exon 11 Deletion c.5898delT 5 - Definitely pathogenic >0.99 Duran (2003) Hum Mutat 21; 448
BIC nucleic acid #: 6126delT
chr13:32914390 (+) chr13:32340253 (+)
Exon 11 Deletion c.5904_5907del4 5 - Definitely pathogenic >0.99 Noguchi (2000) Hum Mutat 17; 155
BIC nucleic acid #: 6132_6135del4
chr13:32914396-32914399 (+) chr13:32340259-32340262 (+)
Exon 11 Nonsense c.5909C>A p.S1970* 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 6137C>A
chr13:32914401:+ chr13:32340264:+
Exon 11 Deletion c.5913delT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6141delT
chr13:32914405 (+) chr13:32340268 (+)
Exon 11 Nonsense c.5925T>A p.C1975* 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 6153T>A
chr13:32914417:+ chr13:32340280:+
Exon 11 Insertion c.5934dupT 5 - Definitely pathogenic >0.99 Goggins (1996) Cancer Res 56; 5360
BIC nucleic acid #: 6162dupT
chr13:32914426-32914427 (+) chr13:32340289-32340290 (+)
Exon 11 Deletion c.5938delA 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 6166delA
chr13:32914430 (+) chr13:32340293 (+)
Exon 11 Deletion c.5944delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6172delA
chr13:32914436 (+) chr13:32340299 (+)
Exon 11 Insertion c.5945dupG 5 - Definitely pathogenic >0.99 Bonadona (2005) Genes Chromosomes Cancer 43; 404
BIC nucleic acid #: 6173dupG
chr13:32914437-32914438 (+) chr13:32340300-32340301 (+)
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
chr13:32914438 (+) chr13:32340301 (+)
Exon 11 Deletion c.5946_5949del4 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 6174_6177del4
chr13:32914438-32914441 (+) chr13:32340301-32340304 (+)
Exon 11 Deletion c.5946_5950del5 5 - Definitely pathogenic >0.99 Johannsson (1999) Eur J Cancer 35; 1248
BIC nucleic acid #: 6174_6178del5
chr13:32914438-32914442 (+) chr13:32340301-32340305 (+)
Exon 11 Insertion c.5952dupA 5 - Definitely pathogenic >0.99 Valarmathi (2004) Hum Mutat 23; 205
BIC nucleic acid #: 6180dupA
chr13:32914444-32914445 (+) chr13:32340307-32340308 (+)
Exon 11 Deletion c.5954_5955delCT 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 6182_6183delCT
chr13:32914446-32914447 (+) chr13:32340309-32340310 (+)
Exon 11 Deletion c.5964_5965delAT 5 - Definitely pathogenic >0.99 Balabas (2010) Fam Cancer 9; 267
BIC nucleic acid #: 6192_6193delAT
chr13:32914456-32914457 (+) chr13:32340319-32340320 (+)
Exon 11 Insertion c.5967dupA 5 - Definitely pathogenic >0.99 Thirthagiri (2008) Breast Cancer Res 10; R59
BIC nucleic acid #: 6195dupA
chr13:32914459-32914460 (+) chr13:32340322-32340323 (+)
Exon 11 Insertion c.5975dupC 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6203dupC
chr13:32914467-32914468 (+) chr13:32340330-32340331 (+)
Exon 11 Nonsense c.5980C>T p.Q1994* 5 - Definitely pathogenic >0.99 Phelan (2002) Hum Mutat 20; 352
BIC nucleic acid #: 6208C>T
chr13:32914472:+ chr13:32340335:+
Exon 11 Nonsense c.5992C>T p.Q1998* 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 6220C>T
chr13:32914484:+ chr13:32340347:+
Exon 11 Deletion c.5993_5994delAA 5 - Definitely pathogenic >0.99 Castera (2014) EJHG 22, 1305
BIC nucleic acid #: 6221_6222delAA
chr13:32914485-32914486 (+) chr13:32340348-32340349 (+)
Exon 11 Deletion c.5994delA 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 6222delA
chr13:32914486 (+) chr13:32340349 (+)
Exon 11 Insertion c.5996dupT 5 - Definitely pathogenic >0.99 Zhen (2015) GENET MED 17, 569
BIC nucleic acid #: 6224dupT
chr13:32914488-32914489 (+) chr13:32340351-32340352 (+)
Exon 11 Deletion c.6012_6016del5 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 6240_6244del5
chr13:32914504-32914508 (+) chr13:32340367-32340371 (+)
Exon 11 Deletion c.6014_6017del4 5 - Definitely pathogenic >0.99 Silva (2014) BMC MG 15, 55
BIC nucleic acid #: 6242_6245del4
chr13:32914506-32914509 (+) chr13:32340369-32340372 (+)
Exon 11 Insertion c.6024dupG 5 - Definitely pathogenic >0.99 Salgado (2005) Oncol Rep 14; 85
BIC nucleic acid #: 6252dupG
chr13:32914516-32914517 (+) chr13:32340379-32340380 (+)
Exon 11 Nonsense c.6025C>T p.Q2009* 5 - Definitely pathogenic >0.99 Pal (2005) Cancer 104; 2807
BIC nucleic acid #: 6253C>T
chr13:32914517:+ chr13:32340380:+
Exon 11 Deletion c.6033_6034delTT 5 - Definitely pathogenic >0.99 Li (2008) Breast Cancer Res Treat 110; 99
BIC nucleic acid #: 6261_6262delTT
chr13:32914525-32914526 (+) chr13:32340388-32340389 (+)
Exon 11 Insertion c.6033_6034insGT 5 - Definitely pathogenic >0.99 Yassaee (2002) Breast Cancer Res 4; R6
BIC nucleic acid #: 6261_6262insGT
chr13:32914525-32914526 (+) chr13:32340388-32340389 (+)
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
chr13:32914529:+ chr13:32340392:+
Exon 11 Deletion c.6039delA 5 - Definitely pathogenic >0.99 Tedaldi (2017) ONCTARG epub, epub
BIC nucleic acid #: 6267delA
chr13:32914531 (+) chr13:32340394 (+)
Exon 11 Nonsense c.6058G>T p.E2020* 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 6286G>T
chr13:32914550:+ chr13:32340413:+
Exon 11 Deletion c.6060_6063del4 5 - Definitely pathogenic >0.99 Bergman (2005) Fam Cancer 4; 89
BIC nucleic acid #: 6288_6291del4
chr13:32914552-32914555 (+) chr13:32340415-32340418 (+)
Exon 11 Nonsense c.6065C>G p.S2022* 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 6293C>G
chr13:32914557:+ chr13:32340420:+
Exon 11 Deletion c.6068_6072del5 5 - Definitely pathogenic >0.99 Susswein (2016) GENET MED 18, 823
BIC nucleic acid #: 6296_6300del5
chr13:32914560-32914564 (+) chr13:32340423-32340427 (+)
Exon 11 Nonsense c.6070C>T p.Q2024* 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6298C>T
chr13:32914562:+ chr13:32340425:+
Exon 11 Deletion c.6071delA 5 - Definitely pathogenic >0.99 Couch (1996) Nat Genet 13; 123
BIC nucleic acid #: 6299delA
chr13:32914563 (+) chr13:32340426 (+)
Exon 11 Deletion c.6076delA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6304delA
chr13:32914568 (+) chr13:32340431 (+)
Exon 11 Deletion c.6078_6079delAA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6306_6307delAA
chr13:32914570-32914571 (+) chr13:32340433-32340434 (+)
Exon 11 Insertion c.6079dupA 5 - Definitely pathogenic >0.99 Evans (2001) Fam Cancer 1; 131
BIC nucleic acid #: 6307dupA
chr13:32914571-32914572 (+) chr13:32340434-32340435 (+)
Exon 11 Insertion c.6081dupA 5 - Definitely pathogenic >0.99 Loizidou (2017) CLIN GENET 91, 611
BIC nucleic acid #: 6309dupA
chr13:32914573-32914574 (+) chr13:32340436-32340437 (+)
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
chr13:32914574:+ chr13:32340437:+
Exon 11 Deletion c.6082_6083delGA 5 - Definitely pathogenic >0.99 Torres (2017) SCI REP 7,
BIC nucleic acid #: 6310_6311delGA
chr13:32914574-32914575 (+) chr13:32340437-32340438 (+)
Exon 11 Deletion c.6082_6086del5 5 - Definitely pathogenic >0.99 Bergthorsson (2001) J Med Genet 38; 361
BIC nucleic acid #: 6310_6314del5
chr13:32914574-32914578 (+) chr13:32340437-32340441 (+)
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
chr13:32914577:+ chr13:32340440:+
Exon 11 Insertion c.6091dupA 5 - Definitely pathogenic >0.99 Loizidou (2017) CLIN GENET 91, 611
BIC nucleic acid #: 6319dupA
chr13:32914583-32914584 (+) chr13:32340446-32340447 (+)
Exon 11 Insertion c.6096dupT 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 6324dupT
chr13:32914588-32914589 (+) chr13:32340451-32340452 (+)
Exon 11 Missense c.6100C>T p.R2034C 1 - Not pathogenic or of no clinical significance 0 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:
chr13:32914592:+ chr13:32340455:+
Exon 11 Nonsense c.6124C>T p.Q2042* 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 6352C>T
chr13:32914616:+ chr13:32340479:+
Exon 11 Nonsense c.6137C>A p.S2046* 5 - Definitely pathogenic >0.99 Pal (2013) JCOMMG epub, epub
BIC nucleic acid #: 6365C>A
chr13:32914629:+ chr13:32340492:+
Exon 11 Nonsense c.6141T>A p.Y2047* 5 - Definitely pathogenic >0.99 Cao (2015) BMC C 16,
BIC nucleic acid #: 6369T>A
chr13:32914633:+ chr13:32340496:+
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:
chr13:32914635:+ chr13:32340498:+
Exon 11 Insertion c.6147_6148insAA 5 - Definitely pathogenic >0.99 Saxena (2006) BMC Med Genet 7; 75
BIC nucleic acid #: 6375_6376insAA
chr13:32914639-32914640 (+) chr13:32340502-32340503 (+)
Exon 11 Deletion c.6154delT 5 - Definitely pathogenic >0.99 Patmasiriwat (2002) Hum Mutat 20; 230
BIC nucleic acid #: 6382delT
chr13:32914646 (+) chr13:32340509 (+)
Exon 11 Nonsense c.6155C>A p.S2052* 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6383C>A
chr13:32914647:+ chr13:32340510:+
Exon 11 Insertion c.6161_6162insG 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6389_6390insG
chr13:32914653-32914654 (+) chr13:32340516-32340517 (+)
Exon 11 Deletion c.6164delT 5 - Definitely pathogenic >0.99 Dutil (2012) Cancer Genet 205; 242
BIC nucleic acid #: 6392delT
chr13:32914656 (+) chr13:32340519 (+)
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
chr13:32914661:+ chr13:32340524:+
Exon 11 Missense c.6172T>A p.F2058I 1 - Not pathogenic or of no clinical significance 0 Whiley PJ, et al., PLoS One, 9:e86836, 2014 Tavtigian SV et al., Hum Mutat, 29(11):1342-1354, 2008
BIC nucleic acid #: 6400T>A
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.04
  • Pathology:
  • Sum Family: 0.2
  • Co-occurrence: 1.12
  • Functional assay:
  • Products of LRs: 0.00896
chr13:32914664:+ chr13:32340527:+
Exon 11 Deletion c.6174delT 5 - Definitely pathogenic >0.99 Tamary (2010) Haematologica 95; 1300
BIC nucleic acid #: 6402delT
chr13:32914666 (+) chr13:32340529 (+)
Exon 11 Deletion c.6198_6199delTT 5 - Definitely pathogenic >0.99 Schubert (1997) Am J Hum Genet 60; 1031
BIC nucleic acid #: 6426_6427delTT
chr13:32914690-32914691 (+) chr13:32340553-32340554 (+)
Exon 11 Deletion c.6201delC 5 - Definitely pathogenic >0.99 Adem (2003) Cancer 97; 1
BIC nucleic acid #: 6429delC
chr13:32914693 (+) chr13:32340556 (+)
Exon 11 Insertion c.6202dupA 5 - Definitely pathogenic >0.99 Santarosa (1999) Int J Cancer 83; 5
BIC nucleic acid #: 6430dupA
chr13:32914694-32914695 (+) chr13:32340557-32340558 (+)
Exon 11 Deletion c.6205delA 5 - Definitely pathogenic >0.99 Personal Communication (Husam Khalil, Damascus University)
BIC nucleic acid #: 6433delA
chr13:32914697 (+) chr13:32340560 (+
Exon 11 Deletion c.6206delT 5 - Definitely pathogenic >0.99 Serova-Sinilnikova (1997) Am J Hum Genet 60; 1236
BIC nucleic acid #: 6434delT
chr13:32914698 (+) chr13:32340561 (+)
Exon 11 Insertion c.6206dupT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6434dupT
chr13:32914698-32914699 (+) chr13:32340561-32340562 (+)
Exon 11 Deletion c.6209_6212del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6437_6440del4
chr13:32914701-32914704 (+) chr13:32340564-32340567 (+)
Exon 11 Deletion c.6211delA 5 - Definitely pathogenic >0.99 Kraus (2016) IJC ,
BIC nucleic acid #: 6439delA
chr13:32914703 (+) chr13:32340566 (+)
Exon 11 Deletion c.6216delC 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 6444delC
chr13:32914708 (+) chr13:32340571 (+)
Exon 11 Missense c.6220C>A p.H2074N 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32914712:+ chr13:32340575:+
Exon 11 Deletion c.6226_6229del4 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 6454_6457del4
chr13:32914718-32914721 (+) chr13:32340581-32340584 (+)
Exon 11 Deletion c.6235delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6463delG
chr13:32914727 (+) chr13:32340590 (+)
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
chr13:32914731:+ chr13:32340594:+
Exon 11 Insertion c.6240dupA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6468dupA
chr13:32914732-32914733 (+) chr13:32340595-32340596 (+)
Exon 11 Deletion c.6244delG 5 - Definitely pathogenic >0.99 Villarreal-Garza (2015) CANCER 121, 372
BIC nucleic acid #: 6472delG
chr13:32914736 (+) chr13:32340599 (+)
Exon 11 Deletion c.6256_6259del4 5 - Definitely pathogenic >0.99 Kwong (2016) JMD 18, 580
BIC nucleic acid #: 6484_6487del4
chr13:32914748-32914751 (+) chr13:32340611-32340614 (+)
Exon 11 Insertion c.6261_6262insGT 5 - Definitely pathogenic >0.99 Yassaee (2016) APJCP 17SpNo, 149
BIC nucleic acid #: 6489_6490insGT
chr13:32914753-32914754 (+) chr13:32340616-32340617 (+)
Exon 11 Deletion c.6262delA 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 6490delA
chr13:32914754 (+) chr13:32340617 (+)
Exon 11 Deletion c.6264_6268del5 5 - Definitely pathogenic >0.99 Nakamura (2015) BRCA 22, 462
BIC nucleic acid #: 6492_6496del5
chr13:32914756-32914760 (+) chr13:32340619-32340623 (+)
Exon 11 Indel c.6267_6269delGCAinsC 5 - Definitely pathogenic >0.99 Vehmanen (1997) Am J Hum Genet 60; 1050
BIC nucleic acid #: 6495_6497delGCAinsC
chr13:32914759-32914761 (+) chr13:32340622-32340624 (+)
Exon 11 Deletion c.6268_6269delCA 5 - Definitely pathogenic >0.99 Eerola (2005) Breast Cancer Res 7; R93
BIC nucleic acid #: 6496_6497delCA
chr13:32914760-32914761 (+) chr13:32340623-32340624 (+)
Exon 11 Deletion c.6270_6271delTA 5 - Definitely pathogenic >0.99 Goelen (1999) J Med Genet 36; 304
BIC nucleic acid #: 6498_6499delTA
chr13:32914762-32914763 (+) chr13:32340625-32340626 (+)
Exon 11 Deletion c.6275_6276delTT 5 - Definitely pathogenic >0.99 Wooster (1995) Nature 378; 789
BIC nucleic acid #: 6503_6504delTT
chr13:32914767-32914768 (+) chr13:32340630-32340631 (+)
Exon 11 Deletion c.6276delT 5 - Definitely pathogenic >0.99 Hopper (1999) Cancer Epidemiol Biomarkers Prev 8; 741
BIC nucleic acid #: 6504delT
chr13:32914768 (+) chr13:32340631 (+)
Exon 11 Deletion c.6280_6286del7 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 6508_6514del7
chr13:32914772-32914778 (+) chr13:32340635-32340641 (+)
Exon 11 Deletion c.6288_6289delTA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6516_6517delTA
chr13:32914780-32914781 (+) chr13:32340643-32340644 (+)
Exon 11 Deletion c.6302delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6530delA
chr13:32914794 (+) chr13:32340657 (+)
Exon 11 Nonsense c.6308C>A p.S2103* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 6536C>A
chr13:32914800:+ chr13:32340663:+
Exon 11 Nonsense c.6308C>G p.S2103* 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 6536C>G
chr13:32914800:+ chr13:32340663:+
Exon 11 Deletion c.6313delA 5 - Definitely pathogenic >0.99 Minucci (2015) ERMD 15, 1383
BIC nucleic acid #: 6541delA
chr13:32914805 (+) chr13:32340668 (+)
Exon 11 Insertion c.6313dupA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6541dupA
chr13:32914805-32914806 (+) chr13:32340668-32340669 (+)
Exon 11 Deletion c.6320delC 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 6548delC
chr13:32914812 (+) chr13:32340675 (+)
Exon 11 Missense c.6322C>T p.R2108C 2 - Likely not pathogenic or of little clinical significance 0.001 Whiley PJ, et al., PLoS One, 9:e86836, 2014 Tavtigian SV et al., Hum Mutat, 29(11):1342-1354, 2008
BIC nucleic acid #: 6550C>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.02
  • Combined: 0.02
Observational data
  • Segregation: 0.06
  • Pathology:
  • Sum Family:
  • Co-occurrence:
  • Functional assay:
  • Products of LRs: 0.06
chr13:32914814:+ chr13:32340677:+
Exon 11 Missense c.6323G>A p.R2108H 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32914815:+ chr13:32340678:+
Exon 11 Deletion c.6325_6326delGT 5 - Definitely pathogenic >0.99 Thirthagiri (2008) Breast Cancer Res 10; R59
BIC nucleic acid #: 6553_6554delGT
chr13:32914817-32914818 (+) chr13:32340680-32340681 (+)
Exon 11 Deletion c.6331_6332delAA 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 6559_6560delAA
chr13:32914823-32914824 (+) chr13:32340686-32340687 (+)
Exon 11 Insertion c.6331_6332dupAA 5 - Definitely pathogenic >0.99 Rummel (2017) BCRT ,
BIC nucleic acid #: 6559_6560dupAA
chr13:32914824-32914825 (+) chr13:32340687-32340688 (+)
Exon 11 Deletion c.6335_6336delGA 5 - Definitely pathogenic >0.99 Rose (2000) Gynecol Oncol 77; 319
BIC nucleic acid #: 6563_6564delGA
chr13:32914827-32914828 (+) chr13:32340690-32340691 (+)
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:
chr13:32914830:+ chr13:32340693:+
Exon 11 Insertion c.6349dupT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 6577dupT
chr13:32914841-32914842 (+) chr13:32340704-32340705 (+)
Exon 11 Deletion c.6352_6353delGT 5 - Definitely pathogenic >0.99 Piek (2003) Fam Cancer 2; 73
BIC nucleic acid #: 6580_6581delGT
chr13:32914844-32914845 (+) chr13:32340707-32340708 (+)
Exon 11 Deletion c.6353_6366del14 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 6581_6594del14
chr13:32914845-32914858 (+) chr13:32340708-32340721 (+)
Exon 11 Nonsense c.6359C>G p.S2120* 5 - Definitely pathogenic >0.99 Palomba (2009) BMC Cancer 9; 245
BIC nucleic acid #: 6587C>G
chr13:32914851:+ chr13:32340714:+
Exon 11 Deletion c.6373delA 5 - Definitely pathogenic >0.99 Hakansson (1997) Am J Hum Genet 60; 1068
BIC nucleic acid #: 6601delA
chr13:32914865 (+) chr13:32340728 (+)
Exon 11 Insertion c.6373dupA 5 - Definitely pathogenic >0.99 Risch (2001) Am J Hum Genet 68; 700
BIC nucleic acid #: 6601dupA
chr13:32914865-32914866 (+) chr13:32340728-32340729 (+)
Exon 11 Indel c.6373_6375delACCinsG 5 - Definitely pathogenic >0.99 Donenberg (2016) BCRT 159, 131
BIC nucleic acid #: 6601_6603delACCinsG
chr13:32914865-32914867 (+) chr13:32340728-32340730 (+)
Exon 11 Insertion c.6390dupT 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6618dupT
chr13:32914882-32914883 (+) chr13:32340745-32340746 (+)
Exon 11 Deletion c.6392_6396del5 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 6620_6624del5
chr13:32914884-32914888 (+) chr13:32340747-32340751 (+)
Exon 11 Deletion c.6393_6396del4 5 - Definitely pathogenic >0.99 Kwiatkowska (2002) J Med Genet 39; e35
BIC nucleic acid #: 6621_6624del4
chr13:32914885-32914888 (+) chr13:32340748-32340751 (+)
Exon 11 Insertion c.6396dupA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6624dupA
chr13:32914888-32914889 (+) chr13:32340751-32340752 (+)
Exon 11 Deletion c.6401_6404del4 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6629_6632del4
chr13:32914893-32914896 (+) chr13:32340756-32340759 (+)
Exon 11 Deletion c.6405_6409del5 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 6633_6637del5
chr13:32914897-32914901 (+) chr13:32340760-32340764 (+)
Exon 11 Deletion c.6406_6407delTT 5 - Definitely pathogenic >0.99 Awadelkarim (2007) Breast Cancer Res Treat 102; 189
BIC nucleic acid #: 6634_6634delTT
chr13:32914898-32914899 (+) chr13:32340761-32340762 (+)
Exon 11 Deletion c.6407_6411del5 5 - Definitely pathogenic >0.99 Hakansson (1997) Am J Hum Genet 60; 1068
BIC nucleic acid #: 6635_6639del5
chr13:32914899-32914903 (+) chr13:32340762-32340766 (+)
Exon 11 Deletion c.6408_6414del7 5 - Definitely pathogenic >0.99 Tamboom (2010) Hered Cancer Clin Pract 8;
BIC nucleic acid #: 6636_6642del7
chr13:32914900-32914906 (+) chr13:32340763-32340769 (+)
Exon 11 Deletion c.6410delA p.Asn2137Metfs*31 5 - Definitely pathogenic >0.99 Janavicius (2014) CG 207, 195
BIC nucleic acid #: 6638delA
chr13:32914902 (+) chr13:32340765 (+)
Exon 11 Nonsense c.6415G>T p.E2139* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 6643G>T
chr13:32914907:+ chr13:32340770:+
Exon 11 Deletion c.6419delG 5 - Definitely pathogenic >0.99 Guan (2015) FAM CAN 14, 9
BIC nucleic acid #: 6647delG
chr13:32914911 (+) chr13:32340774 (+)
Exon 11 Insertion c.6420_6421insA 5 - Definitely pathogenic >0.99 Jacobi (2007) Genet Med 9; 173
BIC nucleic acid #: 6648_6649insA
chr13:32914912-32914913 (+) chr13:32340775-32340776 (+)
Exon 11 Insertion c.6422dupG 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 6650dupG
chr13:32914914-32914915 (+) chr13:32340777-32340778 (+)
Exon 11 Deletion c.6428delC 5 - Definitely pathogenic >0.99 Yazici (2000) Br J Cancer 83; 737
BIC nucleic acid #: 6656delC
chr13:32914920 (+) chr13:32340783 (+)
Exon 11 Nonsense c.6428C>A p.S2143* 5 - Definitely pathogenic >0.99 Guaoua (2014) AHS 14, 468
BIC nucleic acid #: 6656C>A
chr13:32914920:+ chr13:32340783:+
Exon 11 Deletion c.6434delA 5 - Definitely pathogenic >0.99 Martin (2001) J Clin Oncol 19; 2247
BIC nucleic acid #: 6662delA
chr13:32914926 (+) chr13:32340789 (+)
Exon 11 Deletion c.6434_6441del8 5 - Definitely pathogenic >0.99 Litton (2012) Cancer 118; 321
BIC nucleic acid #: 6662_6669del8
chr13:32914926-32914933 (+) chr13:32340789-32340796 (+)
Exon 11 Deletion c.6437_6440del4 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 6665_6668del4
chr13:32914929-32914932 (+) chr13:32340792-32340795 (+)
Exon 11 Deletion c.6440_6443del4 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6668_6671del4
chr13:32914932-32914935 (+) chr13:32340795-32340798 (+)
Exon 11 Deletion c.6443_6444delCT 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 6671_6672delCT
chr13:32914935-32914936 (+) chr13:32340798-32340799 (+)
Exon 11 Deletion c.6444delT 5 - Definitely pathogenic >0.99 Foley (2015) EBM 2, 74
BIC nucleic acid #: 6672delT
chr13:32914936 (+) chr13:32340799 (+)
Exon 11 Insertion c.6444dupT 5 - Definitely pathogenic >0.99 Hahn (2003) J Natl Cancer Inst 95; 214
BIC nucleic acid #: 6672dupT
chr13:32914936-32914937 (+) chr13:32340799-32340800 (+)
Exon 11 Deletion c.6444_6447del4 5 - Definitely pathogenic >0.99 Sermijn (2004) J Med Genet 41; e23
BIC nucleic acid #: 6672_6675del4
chr13:32914936-32914939 (+) chr13:32340799-32340802 (+)
Exon 11 Deletion c.6445delA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6673delA
chr13:32914937 (+) chr13:32340800 (+)
Exon 11 Deletion c.6445_6446delAT 5 - Definitely pathogenic >0.99 Llort (2002) Hum Mutat 19; 307
BIC nucleic acid #: 6673_6674delAT
chr13:32914937-32914938 (+) chr13:32340800-32340801 (+)
Exon 11 Insertion c.6445_6446dupAT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6673_6674dupAT
chr13:32914938-32914939 (+) chr13:32340801-32340802 (+)
Exon 11 Deletion c.6446_6450del5 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6674_6678del5
chr13:32914938-32914942 (+) chr13:32340801-32340805 (+)
Exon 11 Deletion c.6447_6448delTA 5 - Definitely pathogenic >0.99 Balabas (2010) Fam Cancer 9; 267
BIC nucleic acid #: 6675_6676delTA
chr13:32914939-32914940 (+) chr13:32340802-32340803 (+)
Exon 11 Insertion c.6447_6448dupTA 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 6675_6676dupTA
chr13:32914940-32914941 (+) chr13:32340803-32340804 (+)
Exon 11 Deletion c.6449_6450delAA 5 - Definitely pathogenic >0.99 Foretova (2004) Hum Mutat 23; 397
BIC nucleic acid #: 6677_6678delAA
chr13:32914941-32914942 (+) chr13:32340804-32340805 (+)
Exon 11 Deletion c.6450delA 5 - Definitely pathogenic >0.99 Lin (2016) Oncotarget : [Additional report]
BIC nucleic acid #: 6678delA
chr13:32914942 (+) chr13:32340805 (+)
Exon 11 Insertion c.6450dupA 5 - Definitely pathogenic >0.99 Fries (2002) Mil Med 167; 99
BIC nucleic acid #: 6678dupA
chr13:32914942-32914943 (+) chr13:32340805-32340806 (+)
Exon 11 Deletion c.6450_6459del10 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6678_6687del10
chr13:32914942-32914951 (+) chr13:32340805-32340814 (+)
Exon 11 Deletion c.6451delG 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 6679delG
chr13:32914943 (+) chr13:32340806 (+)
Exon 11 Deletion c.6458delC 5 - Definitely pathogenic >0.99 Torres-Mejia (2015) CEBP 24, 498
BIC nucleic acid #: 6686delC
chr13:32914950 (+) chr13:32340813 (+)
Exon 11 Deletion c.6466_6469del4 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6694_6697del4
chr13:32914958-32914961 (+) chr13:32340821-32340824 (+)
Exon 11 Deletion c.6468_6469delTC 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 6696_6697delTC
chr13:32914960-32914961 (+) chr13:32340823-32340824 (+)
Exon 11 Nonsense c.6478C>T p.Q2160* 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6706C>T
chr13:32914970:+ chr13:32340833:+
Exon 11 Deletion c.6485_6486delAA 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 6713_6714delAA
chr13:32914977-32914978 (+) chr13:32340840-32340841 (+)
Exon 11 Indel c.6485_6487delAACins4 5 - Definitely pathogenic >0.99 Loizidou (2017) CLIN GENET 91, 611
BIC nucleic acid #: 6713_6715delAACins4
chr13:32914977-32914979 (+) chr13:32340840-32340842 (+)
Exon 11 Deletion c.6486_6489del4 5 - Definitely pathogenic >0.99 Edwards (2010) Br J Cancer 103: 918
BIC nucleic acid #: 6714_6717del4
chr13:32914978-32914981 (+) chr13:32340841-32340844 (+)
Exon 11 Insertion c.6487_6488insTT 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 6715_6716insTT
chr13:32914979-32914980 (+) chr13:32340842-32340843 (+)
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
chr13:32914982:+ chr13:32340845:+
Exon 11 Indel c.6490_6492delCAGins4 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 6718_6720delCAGins4
chr13:32914982-32914984 (+) chr13:32340845-32340847 (+)
Exon 11 Deletion c.6491delA 5 - Definitely pathogenic >0.99 Wong (2015) PLOS ONE 10, e0134408
BIC nucleic acid #: 6719delA
chr13:32914983 (+) chr13:32340846 (+)
Exon 11 Deletion c.6491_6494del4 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6719_6722del4
chr13:32914983-32914986 (+) chr13:32340846-32340849 (+)
Exon 11 Deletion c.6491_6495del5 5 - Definitely pathogenic >0.99 Sakayori (2003) J Hum Genet 48; 130
BIC nucleic acid #: 6719_6723del5
chr13:32914983-32914987 (+) chr13:32340846-32340850 (+)
Exon 11 Deletion c.6494delT 5 - Definitely pathogenic >0.99 Esteban Carde±osa (2008) Med Clin (Barc) 130; 121
BIC nucleic acid #: 6722delT
chr13:32914986 (+) chr13:32340849 (+)
Exon 11 Deletion c.6527delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6755delA
chr13:32915019 (+) chr13:32340882 (+)
Exon 11 Insertion c.6531dupT 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 6759dupT
chr13:32915023-32915024 (+) chr13:32340886-32340887 (+)
Exon 11 Deletion c.6531_6534del4 5 - Definitely pathogenic >0.99 Litton (2012) Cancer 118; 321
BIC nucleic acid #: 6759_6762del4
chr13:32915023-32915026 (+) chr13:32340886-32340889 (+)
Exon 11 Insertion c.6532dupC 5 - Definitely pathogenic >0.99 Zhong (2016) PLOS ONE 11, e0156789
BIC nucleic acid #: 6760dupC
chr13:32915024-32915025 (+) chr13:32340887-32340888 (+)
Exon 11 Insertion c.6535_6536insA 5 - Definitely pathogenic >0.99 Palma (2008) Cancer Res 68; 7006
BIC nucleic acid #: 6763_6764insA
chr13:32915027-32915028 (+) chr13:32340890-32340891 (+)
Exon 11 Deletion c.6547delG 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 6775delG
chr13:32915039 (+) chr13:32340902 (+)
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
chr13:32915039:+ chr13:32340902:+
Exon 11 Nonsense c.6550C>T p.Q2184* 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 6778C>T
chr13:32915042:+ chr13:32340905:+
Exon 11 Deletion c.6553delG 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 6781delG
chr13:32915045 (+) chr13:32340908 (+)
Exon 11 Nonsense c.6557C>A p.S2186* 5 - Definitely pathogenic >0.99 Jacobi (2007) Genet Med 9; 173
BIC nucleic acid #: 6785C>A
chr13:32915049:+ chr13:32340912:+
Exon 11 Deletion c.6575_6588del14 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 6803_6816del14
chr13:32915067-32915080 (+) chr13:32340930-32340943 (+)
Exon 11 Insertion c.6580dupA p.Ile2194Asnfs*3 5 - Definitely pathogenic >0.99 Janavicius (2014) CG 207, 195
BIC nucleic acid #: 6808dupA
chr13:32915072-32915073 (+) chr13:32340935-32340936 (+)
Exon 11 Deletion c.6589delA 5 - Definitely pathogenic >0.99 Konecny (2010) Breast Cancer Res Treat 119; 233
BIC nucleic acid #: 6817delA
chr13:32915081 (+) chr13:32340944 (+)
Exon 11 Deletion c.6590_6593del4 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 6818_6821del4
chr13:32915082-32915085 (+) chr13:32340945-32340948 (+)
Exon 11 Deletion c.6591_6592delTG 5 - Definitely pathogenic >0.99 Wooster (1995) Nature 378; 789
BIC nucleic acid #: 6819_6820delTG
chr13:32915083-32915084 (+) chr13:32340946-32340947 (+)
Exon 11 Deletion c.6600_6601delTT p.S2201* 5 - Definitely pathogenic >0.99 Haffty (2009) Ann Oncol 20; 1653
BIC nucleic acid #: 6828_6829delTT
chr13:32915092-32915093 (+) chr13:32340955-32340956 (+)
Exon 11 Deletion c.6601delT 5 - Definitely pathogenic >0.99 Hansen (2011) Fam Cancer 10; 207
BIC nucleic acid #: 6829delT
chr13:32915093 (+) chr13:32340956 (+)
Exon 11 Deletion c.6603_6604delTG 5 - Definitely pathogenic >0.99 Claes (1999) Hum Mutat 13; 256
BIC nucleic acid #: 6831_6832delTG
chr13:32915095-32915096 (+) chr13:32340958-32340959 (+)
Exon 11 Deletion c.6611delC 5 - Definitely pathogenic >0.99 Pal (2013) Breast J 19; 189
BIC nucleic acid #: 6839delC
chr13:32915103 (+) chr13:32340966 (+)
Exon 11 Deletion c.6620_6623del4 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 6848_6851del4
chr13:32915112-32915115 (+) chr13:32340975-32340978 (+)
Exon 11 Deletion c.6626_6627delTA 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 6854_6855delTA
chr13:32915118-32915119 (+) chr13:32340981-32340982 (+)
Exon 11 Deletion c.6627_6634del8 5 - Definitely pathogenic >0.99 Laitman (2011) Breast Cancer Res Treat 127; 489
BIC nucleic acid #: 6855_6862del8
chr13:32915119-32915126 (+) chr13:32340982-32340989 (+)
Exon 11 Deletion c.6629_6630delAA 5 - Definitely pathogenic >0.99 Diez (1999) Med Clin (Barc) 112; 179
BIC nucleic acid #: 6857_6858delAA
chr13:32915121-32915122 (+) chr13:32340984-32340985 (+)
Exon 11 Deletion c.6634_6637del4 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 6862_6865del4
chr13:32915126-32915129 (+) chr13:32340989-32340992 (+)
Exon 11 Deletion c.6638delC 5 - Definitely pathogenic >0.99 Machackova (2001) Hum Mutat 18; 545
BIC nucleic acid #: 6866delC
chr13:32915130 (+) chr13:32340993 (+)
Exon 11 Insertion c.6641dupC 5 - Definitely pathogenic >0.99 Levanat (2012) Gene 498; 169
BIC nucleic acid #: 6869dupC
chr13:32915133-32915134 (+) chr13:32340996-32340997 (+)
Exon 11 Deletion c.6643delT 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6871delT
chr13:32915135 (+) chr13:32340998 (+)
Exon 11 Insertion c.6644dupA 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 6872dupA
chr13:32915136-32915137 (+) chr13:32340999-32341000 (+)
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
chr13:32915136-32915139 (+) chr13:32340999-32341002 (+)
Exon 11 Deletion c.6645delC 5 - Definitely pathogenic >0.99 Nelson-Moseke (2013) Fam Cancer 12; 83
BIC nucleic acid #: 6873delC
chr13:32915137 (+) chr13:32341000 (+)
Exon 11 Nonsense c.6645C>G p.Y2215* 5 - Definitely pathogenic >0.99 Walsh (2017) CSHMCS 3,
BIC nucleic acid #: 6873C>G
chr13:32915137:+ chr13:32341000:+
Exon 11 Deletion c.6645_6648del4 5 - Definitely pathogenic >0.99 Kwong (2016) JMG 53, 15
BIC nucleic acid #: 6873_6876del4
chr13:32915137-32915140 (+) chr13:32341000-32341003 (+)
Exon 11 Insertion c.6652dupG 5 - Definitely pathogenic >0.99 Ozdag (2000) Eur J Cancer 36; 2076
BIC nucleic acid #: 6880dupG
chr13:32915144-32915145 (+) chr13:32341007-32341008 (+)
Exon 11 Nonsense c.6656C>G p.S2219* 5 - Definitely pathogenic >0.99 Duran (2003) Hum Mutat 21; 448
BIC nucleic acid #: 6884C>G
chr13:32915148:+ chr13:32341011:+
Exon 11 Deletion c.6658_6662del5 5 - Definitely pathogenic >0.99 Grzybowska (2000) Hum Mutat 16; 482
BIC nucleic acid #: 6886_6890del5
chr13:32915150-32915154 (+) chr13:32341013-32341017 (+)
Exon 11 Insertion c.6663_6664ins4 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 6891_6892ins4
chr13:32915155-32915156 (+) chr13:32341018-32341019 (+)
Exon 11 Deletion c.6673delA 5 - Definitely pathogenic >0.99 Toh (2008) PLoS One 3; e2024
BIC nucleic acid #: 6901delA
chr13:32915165 (+) chr13:32341028 (+)
Exon 11 Deletion c.6675delA 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6903delA
chr13:32915167 (+) chr13:32341030 (+)
Exon 11 Deletion c.6676_6677delGA 5 - Definitely pathogenic >0.99 Loizidou (2017) CLIN GENET 91, 611
BIC nucleic acid #: 6904_6905delGA
chr13:32915168-32915169 (+) chr13:32341031-32341032 (+)
Exon 11 Deletion c.6678delA 5 - Definitely pathogenic >0.99 Kwong (2016) JMD 18, 580
BIC nucleic acid #: 6906delA
chr13:32915170 (+) chr13:32341033 (+)
Exon 11 Insertion c.6682dupG 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 6910dupG
chr13:32915174-32915175 (+) chr13:32341037-32341038 (+)
Exon 11 Deletion c.6684delA 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 6912delA
chr13:32915176 (+) chr13:32341039 (+)
Exon 11 Nonsense c.6685G>T p.E2229* 5 - Definitely pathogenic >0.99 Lolas Hamameh (2017) IJC 141, 750
BIC nucleic acid #: 6913G>T
chr13:32915177:+ chr13:32341040:+
Exon 11 Deletion c.6688delA 5 - Definitely pathogenic >0.99 Kim (2012) Breast Cancer Res Treat 134; 1315
BIC nucleic acid #: 6916delA
chr13:32915180 (+) chr13:32341043 (+)
Exon 11 Deletion c.6690delT 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6918delT
chr13:32915182 (+) chr13:32341045 (+)
Exon 11 Deletion c.6702delT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 6930delT
chr13:32915194 (+) chr13:32341057 (+)
Exon 11 Insertion c.6699_6702dup4 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6927_6930dup4
chr13:32915194-32915195 (+) chr13:32341057-32341058 (+)
Exon 11 Deletion c.6703_6704delAT 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 6931_6932delAT
chr13:32915195-32915196 (+) chr13:32341058-32341059 (+)
Exon 11 Deletion c.6706delG 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 6934delG
chr13:32915198 (+) chr13:32341061 (+)
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
chr13:32915207:+ chr13:32341070:+
Exon 11 Insertion c.6722_6723dupCA 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 6950_6951dupCA
chr13:32915215-32915216 (+) chr13:32341078-32341079 (+)
Exon 11 Deletion c.6724_6725delGA 5 - Definitely pathogenic >0.99 Seong (2009) Clin Genet 76; 152
BIC nucleic acid #: 6952_6953delGA
chr13:32915216-32915217 (+) chr13:32341079-32341080 (+)
Exon 11 Nonsense c.6730A>T p.K2244* 5 - Definitely pathogenic >0.99 Bayraktar (2012) Cancer 118; 1515
BIC nucleic acid #: 6958A>T
chr13:32915222:+ chr13:32341085:+
Exon 11 Deletion c.6732delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 6960delA
chr13:32915224 (+) chr13:32341087 (+)
Exon 11 Deletion c.6743_6755del13 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 6971_6983del13
chr13:32915235-32915247 (+) chr13:32341098-32341110 (+)
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:
chr13:32915240:+ chr13:32341103:+
Exon 11 Deletion c.6753_6754delTT 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 6981_6982delTT
chr13:32915245-32915246 (+) chr13:32341108-32341109 (+)
Exon 11 Insertion c.6754dupT 5 - Definitely pathogenic >0.99 Meindl (2002) Int J Cancer 97; 472
BIC nucleic acid #: 6982dupT
chr13:32915246-32915247 (+) chr13:32341109-32341110 (+)
Exon 11 Deletion c.6757_6758delCT 5 - Definitely pathogenic >0.99 Schorge (2001) Gynecol Oncol 83; 383
BIC nucleic acid #: 6985_6986delCT
chr13:32915249-32915250 (+) chr13:32341112-32341113 (+)
Exon 11 Deletion c.6761_6762delTT 5 - Definitely pathogenic >0.99 Maxwell (2017) NAT COMM 8, 319
BIC nucleic acid #: 6989_6990delTT
chr13:32915253-32915254 (+) chr13:32341116-32341117 (+)
Exon 11 Nonsense c.6781G>T p.E2261* 5 - Definitely pathogenic >0.99 Schroeder (2015) BCRT 152, 129
BIC nucleic acid #: 7009G>T
chr13:32915273:+ chr13:32341136:+
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
chr13:32915292:+ chr13:32341155:+
Exon 11 Nonsense c.6800C>G p.S2267* 5 - Definitely pathogenic >0.99 Sun (2017) CCR 23, 6113
BIC nucleic acid #: 7028C>G
chr13:32915292:+ chr13:32341155:+
Exon 11 Deletion c.6814delA 5 - Definitely pathogenic >0.99 Novakovic (2012) Int J Oncol epub; epub
BIC nucleic acid #: 7042delA
chr13:32915306 (+) chr13:32341169 (+)
Exon 11 Deletion c.6816_6817delAA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 7044_7045delAA
chr13:32915308-32915309 (+) chr13:32341171-32341172 (+)
Exon 11 Deletion c.6816_6820del5 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 7044_7048del5
chr13:32915308-32915312 (+) chr13:32341171-32341175 (+)
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:
chr13:32915313:+ chr13:32341176:+
Exon 11 Deletion c.6833_6837del5 5 - Definitely pathogenic >0.99 Gayther (1997) Nat Genet 15; 103
BIC nucleic acid #: 7061_7065del5
chr13:32915325-32915329 (+) chr13:32341188-32341192 (+)
Exon 11 Indel c.6836_6837delTAins15 5 - Definitely pathogenic >0.99 LaDuca (2017) PLOS ONE 12,
BIC nucleic acid #: 7064_7065delTAinsCTTTGTGGTAAGTTT
chr13:32915328-32915329 (+) chr13:32341191-32341192 (+)
Intron 11 Deletion c.6841+1delG 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 7069+1delG
chr13:32915334 (+) chr13:32341197 (+)
Exon 12 Deletion c.6849delC 5 - Definitely pathogenic >0.99 Maxwell (2017) NAT COMM 8, 319
BIC nucleic acid #: 7077delC
chr13:32918702 (+) chr13:32344565 (+)
Exon 12 Missense c.6853A>G p.I2285V 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32918706:+ chr13:32344569:+
Exon 12 Deletion c.6859_6863del5 5 - Definitely pathogenic >0.99 Edwards (2003) Am J Hum Genet 72; 1
BIC nucleic acid #: 7087_7091del5
chr13:32918712-32918716 (+) chr13:32344575-32344579 (+)
Exon 12 Insertion c.6896dupA 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 7124dupA
chr13:32918749-32918750 (+) chr13:32344612-32344613 (+)
Exon 12 Deletion c.6916delG 5 - Definitely pathogenic >0.99 Santonocito (2017) BREAST 36, 74
BIC nucleic acid #: 7144delG
chr13:32918769 (+) chr13:32344632 (+)
Exon 12 Missense c.6935A>T p.D2312V 1 - Not pathogenic or of no clinical significance 0.00003 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007.
BIC nucleic acid #: 7163A>T
PRIOR
  • Position & Align-GVGD: 0.02
  • Splicing: 0.5
  • Combined: 0.5
Observational data
  • Segregation: 0.0123
  • Pathology:
  • Sum Family: 1.15
  • Co-occurrence: 0.00186
  • Functional assay:
  • Products of LRs: 0.0000263
chr13:32918788:+ chr13:32344651:+
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
chr13:32918792 (+) chr13:32344655 (+)
Exon 13 Deletion c.6941delC 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 7169delC
chr13:32920967 (+) chr13:32346830 (+)
Exon 13 Deletion c.6944_6947del4 5 - Definitely pathogenic >0.99 Frank (1998) J Clin Oncol 16; 2417
BIC nucleic acid #: 7172_7175del4
chr13:32920970-32920973 (+) chr13:32346833-32346836 (+)
Exon 13 Insertion c.6948_6949insTT 5 - Definitely pathogenic >0.99 De Leeneer (2012) Breast Cancer Res Treat 132; 87
BIC nucleic acid #: 7176_7177insTT
chr13:32920974-32920975 (+) chr13:32346837-32346838 (+)
Exon 13 Nonsense c.6952C>T p.R2318* 5 - Definitely pathogenic >0.99 Wagner (1999) Genomics 62; 369
BIC nucleic acid #: 7180C>T
chr13:32920978:+ chr13:32346841:+
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:
chr13:32920979:+ chr13:32346842:+
Exon 13 Deletion c.6959delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 7187delT
chr13:32920985 (+) chr13:32346848 (+)
Exon 13 Deletion c.6996delT 5 - Definitely pathogenic >0.99 Zhang (2011) Gynecol Oncol epub; epub
BIC nucleic acid #: 7224delT
chr13:32921022 (+) chr13:32346885 (+)
Exon 13 Insertion c.6998dupT 5 - Definitely pathogenic >0.99 Tedaldi (2017) ONCTARG epub, epub
BIC nucleic acid #: 7226dupT
chr13:32921024-32921025 (+) chr13:32346887-32346888 (+)
Exon 13 Insertion c.6999_7000insT 5 - Definitely pathogenic >0.99 Janavicius (2014) CG 207, 195
BIC nucleic acid #: 7227_7228insT
chr13:32921025-32921026 (+) chr13:32346888-32346889 (+)
Exon 13 Deletion c.7003_7007del5 5 - Definitely pathogenic >0.99 Wooster (1995) Nature 378; 789
BIC nucleic acid #: 7231_7235del5
chr13:32921029-32921033 (+) chr13:32346892-32346896 (+)
Exon 13 Deletion c.7006delC 5 - Definitely pathogenic >0.99 Kang (2015) BCRT 151, 157
BIC nucleic acid #: 7234delC
chr13:32921032 (+) chr13:32346895 (+)
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
chr13:32921033:+ chr13:32346896:+
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
chr13:32921033:+ chr13:32346896:+
Exon 13 Splice Site c.7007G>T 5 - Definitely pathogenic >0.99 Kwong (2012) PLoS One 7; e43994
BIC nucleic acid #: 7235G>T
chr13:32921033:+ chr13:32346896:+
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
chr13:32921034:+ chr13:32346897:+
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
chr13:32921034:+ chr13:32346897:+
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
chr13:32928996:+ chr13:32354859:+
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
chr13:32928996:+ chr13:32354859:+
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
chr13:32928997:+ chr13:32354860:+
Exon 14 Deletion c.7025_7026delAA 5 - Definitely pathogenic >0.99 Friedman (1997) Am J Hum Genet 60; 313
BIC nucleic acid #: 7253_7254delAA
chr13:32929015-32929016 (+) chr13:32354878-32354879 (+)
Exon 14 Insertion c.7032dupA 5 - Definitely pathogenic >0.99 Robson (2002) J Med Genet 39; 126
BIC nucleic acid #: 7260dupA
chr13:32929022-32929023 (+) chr13:32354885-32354886 (+)
Exon 14 Deletion c.7047delT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 7275delT
chr13:32929037 (+) chr13:32354900 (+)
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:
chr13:32929042:+ chr13:32354905:+
Exon 14 Deletion c.7058delG 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 7286delG
chr13:32929048 (+) chr13:32354911 (+)
Exon 14 Nonsense c.7060C>T p.Q2354* 5 - Definitely pathogenic >0.99 Duran (2003) Hum Mutat 21; 448
BIC nucleic acid #: 7288C>T
chr13:32929050:+ chr13:32354913:+
Exon 14 Deletion c.7067_7068delTT 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 7295_7296delTT
chr13:32929057-32929058 (+) chr13:32354920-32354921 (+)
Exon 14 Deletion c.7069_7070delCT 5 - Definitely pathogenic >0.99 Garvin (1997) J Med Genet 34; 990
BIC nucleic acid #: 7297_7298delCT
chr13:32929059-32929060 (+) chr13:32354922-32354923 (+)
Exon 14 Deletion c.7092delA 5 - Definitely pathogenic >0.99 van der Hout (2006) Hum Mutat 27; 654
BIC nucleic acid #: 7320delA
chr13:32929082 (+) chr13:32354945 (+)
Exon 14 Insertion c.7082_7100dup19 5 - Definitely pathogenic >0.99 van der Looij (2000) Hum Mutat 15; 480
BIC nucleic acid #: 7310_7328dup19
chr13:32929090-32929091 (+) chr13:32354953-32354954 (+)
Exon 14 Deletion c.7109_7110delAA 5 - Definitely pathogenic >0.99 Osorio (1997) Cancer Lett 121; 115
BIC nucleic acid #: 7337_7338delAA
chr13:32929099-32929100 (+) chr13:32354962-32354963 (+)
Exon 14 Deletion c.7110delA 5 - Definitely pathogenic >0.99 Tazzite (2012) Gynecol Oncol 125; 687
BIC nucleic acid #: 7338delA
chr13:32929100 (+) chr13:32354963 (+)
Exon 14 Insertion c.7110dupA 5 - Definitely pathogenic >0.99 Solano (2012) SpringerPlus 1;
BIC nucleic acid #: 7338dupA
chr13:32929100-32929101 (+) chr13:32354963-32354964 (+)
Exon 14 Nonsense c.7115C>G p.S2372* 5 - Definitely pathogenic >0.99 Furukawa (2015) SCI REP 5, 8829
BIC nucleic acid #: 7343C>G
chr13:32929105:+ chr13:32354968:+
Exon 14 Nonsense c.7133C>G p.S2378* 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 7361C>G
chr13:32929123:+ chr13:32354986:+
Exon 14 Deletion c.7142delC 5 - Definitely pathogenic >0.99 Yang (2015) PLOS ONE 10,
BIC nucleic acid #: 7370delC
chr13:32929132 (+) chr13:32354995 (+)
Exon 14 Missense c.7150C>A p.Q2384K 1 - Not pathogenic or of no clinical significance 0 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008.
BIC nucleic acid #: 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:
chr13:32929140:+ chr13:32355003:+
Exon 14 Deletion c.7151_7152delAA 5 - Definitely pathogenic >0.99 Machackova (2008) BMC Cancer 8; 140
BIC nucleic acid #: 7379_7380delAA
chr13:32929141-32929142 (+) chr13:32355004-32355005 (+)
Exon 14 Insertion c.7156dupT 5 - Definitely pathogenic >0.99 Sekine (2001) Clin Cancer Res 7; 3144
BIC nucleic acid #: 7384dupT
chr13:32929146-32929147 (+) chr13:32355009-32355010 (+)
Exon 14 Deletion c.7166delG 5 - Definitely pathogenic >0.99 Evans (2008) Fam Cancer 7; 113
BIC nucleic acid #: 7394delG
chr13:32929156 (+) chr13:32355019 (+)
Exon 14 Insertion c.7177dupA 5 - Definitely pathogenic >0.99 de Juan (2009) Breast Cancer Res Treat 115; 405
BIC nucleic acid #: 7405dupA
chr13:32929167-32929168 (+) chr13:32355030-32355031 (+)
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
chr13:32929170:+ chr13:32355033:+
Exon 14 Deletion c.7183delC 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 7411delC
chr13:32929173 (+) chr13:32355036 (+)
Exon 14 Insertion c.7187dupT 5 - Definitely pathogenic >0.99 Lecarpentier (2012) Breast Cancer Res 14; R99
BIC nucleic acid #: 7415dupT
chr13:32929177-32929178 (+) chr13:32355040-32355041 (+)
Exon 14 Deletion c.7208_7211del4 5 - Definitely pathogenic >0.99 Machado (2007) J Clin Oncol 25; 2027
BIC nucleic acid #: 7436_7439del4
chr13:32929198-32929201 (+) chr13:32355061-32355064 (+)
Exon 14 Indel c.7209_7212del4insGG 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 7437_7440del4insGG
chr13:32929199-32929202 (+) chr13:32355062-32355065 (+)
Exon 14 Indel c.7210_7216del7insTG 5 - Definitely pathogenic >0.99 Borg (2010) Hum Mutat 31; E1200
BIC nucleic acid #: 7438_7444del7insTG
chr13:32929200-32929206 (+) chr13:32355063-32355069 (+)
Exon 14 Deletion c.7223delC 5 - Definitely pathogenic >0.99 Zhang (2015) NEJM 373, 2336
BIC nucleic acid #: 7451delC
chr13:32929213 (+) chr13:32355076 (+)
Exon 14 Deletion c.7224_7227del4 5 - Definitely pathogenic >0.99 Hondow (2011) BMC Cancer 11; 265
BIC nucleic acid #: 7452_7455del4
chr13:32929214-32929217 (+) chr13:32355077-32355080 (+)
Exon 14 Deletion c.7230delT 5 - Definitely pathogenic >0.99 Solano (2016) ONCTARG 8, 60487
BIC nucleic acid #: 7458delT
chr13:32929220 (+) chr13:32355083 (+)
Exon 14 Missense c.7232A>C p.K2411T 1 - Not pathogenic or of no clinical significance 0.00026 Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian SV et al., Hum Mutat, 29(11):1342-1354, 2008
BIC nucleic acid #: 7460A>C
PRIOR
  • Position & Align-GVGD: 0.03
  • Splicing: 0.02
  • Combined: 0.03
Observational data
  • Segregation: 1
  • Pathology:
  • Sum Family: 0.14454
  • Co-occurrence: 0.05754
  • Functional assay:
  • Products of LRs: 0.00832
chr13:32929222:+ chr13:32355085:+
Exon 14 Insertion c.7234_7235insG 5 - Definitely pathogenic >0.99 Tazzite (2012) Gynecol Oncol 125; 687
BIC nucleic acid #: 7462_7465insG
chr13:32929224-32929225 (+) chr13:32355087-32355088 (+)
Exon 14 Insertion c.7235_7236insG 5 - Definitely pathogenic >0.99 Cherbal (2012) BD 34, 1
BIC nucleic acid #: 7463_7464insG
chr13:32929225-32929226 (+) chr13:32355088-32355089 (+)
Exon 14 Deletion c.7251_7252delCA 5 - Definitely pathogenic >0.99 Lubinski (2004) Fam Cancer 3; 1
BIC nucleic acid #: 7479_7480delCA
chr13:32929241-32929242 (+) chr13:32355104-32355105 (+)
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:
chr13:32929242:+ chr13:32355105:+
Exon 14 Deletion c.7254_7255delAG 5 - Definitely pathogenic >0.99 Fackenthal (2012) Int J Cancer 131; 1114
BIC nucleic acid #: 7482_7483delAG
chr13:32929244-32929245 (+) chr13:32355107-32355108 (+)
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
chr13:32929248:+ chr13:32355111:+
Exon 14 Insertion c.7257_7258dupTG 5 - Definitely pathogenic >0.99 Lang (2017) IJC 141, 129
BIC nucleic acid #: 7485_7486dupTG
chr13:32929248-32929249 (+) chr13:32355111-32355112 (+)
Exon 14 Deletion c.7259_7265del7 5 - Definitely pathogenic >0.99 Tung (2015) CANCER 121, 25
BIC nucleic acid #: 7487_7493del7
chr13:32929249-32929255 (+) chr13:32355112-32355118 (+)
Exon 14 Nonsense c.7261C>T p.Q2421* 5 - Definitely pathogenic >0.99 Kiechle (2000) Hum Mutat 16; 529
BIC nucleic acid #: 7489C>T
chr13:32929251:+ chr13:32355114:+
Exon 14 Nonsense c.7266T>A p.C2422* 5 - Definitely pathogenic >0.99 Tea (2014) MAT 77, 68
BIC nucleic acid #: 7494T>A
chr13:32929256:+ chr13:32355119:+
Exon 14 Deletion c.7283delT 5 - Definitely pathogenic >0.99 Dobricić (2013) J Hum Genet 58; 501
BIC nucleic acid #: 7511delT
chr13:32929273 (+) chr13:32355136 (+)
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
chr13:32929293:+ chr13:32355156:+
Exon 14 Deletion c.7307delA 5 - Definitely pathogenic >0.99 Lowery (2011) Oncologist 16; 1397
BIC nucleic acid #: 7535delA
chr13:32929297 (+) chr13:32355160 (+)
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: