Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293511
rs41293511
BRCA2
C 0.700 CausalMutation CLINVAR Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. 29394989

2018
dbSNP: rs41293511
rs41293511
BRCA2
C 0.700 CausalMutation CLINVAR BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. 28283652

2017
dbSNP: rs41293511
rs41293511
BRCA2
C 0.700 CausalMutation CLINVAR Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. 28324225

2017
dbSNP: rs41293511
rs41293511
BRCA2
C 0.700 CausalMutation CLINVAR Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. 25782689

2015
dbSNP: rs41293511
rs41293511
BRCA2
C 0.700 CausalMutation CLINVAR Functional assays for analysis of variants of uncertain significance in BRCA2. 24323938

2014
dbSNP: rs41293511
rs41293511
BRCA2
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
BRCA2
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
BRCA2
C 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014
dbSNP: rs41293511
rs41293511
BRCA2
C 0.700 CausalMutation CLINVAR A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization. 24013206

2013
dbSNP: rs41293511
rs41293511
BRCA2
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
BRCA2
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
BRCA2
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
BRCA2
C 0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011
dbSNP: rs41293511
rs41293511
BRCA2
A 0.700 GeneticVariation CLINVAR Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. 19043619

2008
dbSNP: rs41293511
rs41293511
BRCA2
C 0.700 CausalMutation CLINVAR Functional assays for classification of BRCA2 variants of uncertain significance. 18451181

2008
dbSNP: rs41293511
rs41293511
BRCA2
C 0.700 CausalMutation CLINVAR Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. 19043619

2008
dbSNP: rs41293511
rs41293511
BRCA2
C 0.700 CausalMutation CLINVAR Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. 18951461

2008
dbSNP: rs41293511
rs41293511
BRCA2
C 0.700 CausalMutation CLINVAR Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. 18607349

2008
dbSNP: rs41293511
rs41293511
BRCA2
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
BRCA2
C 0.700 CausalMutation CLINVAR Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. 15695382

2005
dbSNP: rs41293511
rs41293511
BRCA2
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
BRCA2
A 0.700 GeneticVariation CLINVAR BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure. 12228710

2002
dbSNP: rs41293511
rs41293511
BRCA2
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