Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897759
rs28897759
BRCA2
T 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: rs28897759
rs28897759
BRCA2
T 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance. 24728577

2014
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 GeneticVariation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138

2013
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 GeneticVariation CLINVAR Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay. 22678057

2012
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 GeneticVariation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134

2012
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 GeneticVariation CLINVAR Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland. 20383589

2010