Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357006
rs80357006
BRCA1
C 0.700 CausalMutation CLINVAR

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: rs80357086
rs80357086
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs80357167
rs80357167
BRCA1
A 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
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: rs80357287
rs80357287
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357303
rs80357303
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs80357310
rs80357310
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs80357382
rs80357382
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357481
rs80357481
BRCA1
C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357498
rs80357498
BRCA1
T 0.700 CausalMutation CLINVAR Functional differences among BRCA1 missense mutations in the control of centrosome duplication. 21725363

2012
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357580
rs80357580
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
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: rs80357701
rs80357701
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs80357706
rs80357706
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs80357714
rs80357714
BRCA1
AT 0.700 CausalMutation CLINVAR

dbSNP: rs80357718
rs80357718
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357724
rs80357724
BRCA1
G 0.700 CausalMutation CLINVAR

dbSNP: rs80357760
rs80357760
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357772
rs80357772
BRCA1
C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357772
rs80357772
BRCA1
C 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016