Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance. 25146914

2014

dbSNP: rs41293511
rs41293511
C 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: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138

2013

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization. 24013206

2013

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR BRCA1 And BRCA2 analysis of Argentinean breastovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin. 23961350

2012

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134

2012

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States. 20927582

2011

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. 20513136

2010

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. 18607349

2008

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR Functional assays for classification of BRCA2 variants of uncertain significance. 18451181

2008

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype. 18182994

2008

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. 18497862

2008

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene. 18724707

2008

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. 19043619

2008

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR Functional assays for BRCA1 and BRCA2. 16978908

2007

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. 16489001

2006

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. 15695382

2005

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. 15290653

2004

dbSNP: rs41293511
rs41293511
C 0.700 CausalMutation CLINVAR Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons. 11207042

2001