Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917739
rs121917739
0.810 GeneticVariation UNIPROT Tumor-associated mutations in a conserved structural motif alter physical and biochemical properties of human RAD51 recombinase. 25539919

2015

dbSNP: rs121917739
rs121917739
0.810 GeneticVariation BEFREE Few studies have investigated the role of coding region variation in the RAD51 gene in familial breast cancer, with only one coding region variant--exon 6 c.449G>A (p.R150Q)--reported to date. 16762046

2006

dbSNP: rs121917739
rs121917739
0.810 CausalMutation CLINVAR Identification of Rad51 alteration in patients with bilateral breast cancer. 10807537

2000

dbSNP: rs121917739
rs121917739
0.810 GeneticVariation UNIPROT Identification of Rad51 alteration in patients with bilateral breast cancer. 10807537

2000

dbSNP: rs28897672
rs28897672
0.800 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs28897696
rs28897696
0.800 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs41293455
rs41293455
0.800 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs55770810
rs55770810
0.800 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs80357389
rs80357389
0.800 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs28897696
rs28897696
0.800 GeneticVariation UNIPROT A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2014

dbSNP: rs41293455
rs41293455
0.800 GeneticVariation UNIPROT A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2014

dbSNP: rs28897696
rs28897696
0.800 GeneticVariation UNIPROT A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331

2007

dbSNP: rs80357389
rs80357389
0.800 GeneticVariation UNIPROT A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331

2007

dbSNP: rs41293455
rs41293455
0.800 GeneticVariation UNIPROT Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening. 9482581

1998

dbSNP: rs41293455
rs41293455
0.800 GeneticVariation UNIPROT Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491

1995

dbSNP: rs28897696
rs28897696
0.800 GeneticVariation UNIPROT BRCA1 mutations in primary breast and ovarian carcinomas. 7939630

1994

dbSNP: rs28897672
rs28897672
0.800 GeneticVariation UNIPROT

dbSNP: rs55770810
rs55770810
0.800 GeneticVariation UNIPROT

dbSNP: rs28904921
rs28904921
0.710 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs80357382
rs80357382
0.710 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs28904921
rs28904921
0.710 GeneticVariation BEFREE We conclude that the ATM IVS10-6T-->G mutation does not confer a significantly elevated breast cancer risk and that ATM 7271T-->G is a rare event in familial breast cancer. 14871810

2004

dbSNP: rs80357382
rs80357382
0.710 GeneticVariation BEFREE In a BRCA1 screening in familial breast cancer carried out in different centres in Spain, France, and United Kingdom, a missense mutation 330A>G which results in a Arg to Gly change at codon 71 (R71G) was independently identified in 6 families, all of them with Spanish ancestors. 11385711

2001

dbSNP: rs180177099
rs180177099
0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2018

dbSNP: rs587776407
rs587776407
0.700 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2018

dbSNP: rs587782005
rs587782005
0.700 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2018