Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781632
rs587781632
BRCA1
C 0.700 GeneticVariation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs80357243
rs80357243
BRCA1
C 0.700 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010
dbSNP: rs80357243
rs80357243
BRCA1
C 0.700 GeneticVariation CLINVAR Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective. 26344711

2015
dbSNP: rs41293463
rs41293463
BRCA1
0.010 GeneticVariation BEFREE This association was much weaker with the same fragment bearing a missense mutation (M1775R) that has been identified in breast tumors. 10403822

1999
dbSNP: rs55680408
rs55680408
BRCA1
0.010 GeneticVariation BEFREE We used large-scale genetic and clinical resources from the ENIGMA, CIMBA and BCAC consortia to assess pathogenicity of c.594-2A > C. The combined odds for causality considering case-control, segregation and breast tumor pathology information was 3.23 × 10<sup>-8</sup> Our data indicate that c.594-2A > C is always in cis with c.641A > G. The spliceogenic effect of c.[594-2A > C;641A > G] was characterized using RNA analysis of human samples and splicing minigenes. 27008870

2016
dbSNP: rs80357034
rs80357034
BRCA1
0.010 GeneticVariation BEFREE Two genetic variants were initially classified as VUSs (c.1155C>T and c.5191C>A). c.1155C>T is not predicted to be deleterious in the prescreening portion of our assessment strategy. c.5191C>A, on the other hand, causes p.T1691K, which is predicted to have high deleterious probability because of significant structural alteration, a high deleterious score in the predictive programs and, clinically, triple negative characteristics in breast tumors. 22277901

2012
dbSNP: rs80357635
rs80357635
BRCA1
0.010 GeneticVariation BEFREE The observation of BRCA2 -26 G/A 5'UTR polymorphism concomitant with the presence of methylation in the promoter region was novel and emerged as a strong candidate for susceptibility to sporadic breast tumors. 21092294

2010
dbSNP: rs1057517590
rs1057517590
BRCA1
C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs1057518636
rs1057518636
BRCA1
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1060505051
rs1060505051
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131692162
rs1131692162
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555581104
rs1555581104
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555582520
rs1555582520
BRCA1
G 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs1555599208
rs1555599208
BRCA1
C 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs1800747
rs1800747
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs273898674
rs273898674
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs28897672
rs28897672
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs28897696
rs28897696
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs397508940
rs397508940
BRCA1
C 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs397508979
rs397508979
BRCA1
CGAAAAGTGAA 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs397508983
rs397508983
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs397509160
rs397509160
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs397509173
rs397509173
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs398122630
rs398122630
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs41293465
rs41293465
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016