Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs81002858
rs81002858
BRCA2
G 0.700 CausalMutation CLINVAR Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. 31131967

2019
dbSNP: rs81002858
rs81002858
BRCA2
G 0.700 CausalMutation CLINVAR Genetic testing in a cohort of young patients with HER2-amplified breast cancer. 26681682

2016
dbSNP: rs81002858
rs81002858
BRCA2
G 0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014
dbSNP: rs81002858
rs81002858
BRCA2
G 0.700 CausalMutation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045

2012
dbSNP: rs81002858
rs81002858
BRCA2
G 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs81002858
rs81002858
BRCA2
G 0.700 CausalMutation CLINVAR A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer. 14647210

2003
dbSNP: rs81002858
rs81002858
BRCA2
G 0.700 GeneticVariation CLINVAR