Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359083
rs80359083
A 0.700 GeneticVariation CLINVAR Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. 29394989

2018

dbSNP: rs80359083
rs80359083
A 0.700 GeneticVariation CLINVAR Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. 26913838

2016

dbSNP: rs80359083
rs80359083
A 0.700 GeneticVariation CLINVAR Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. 27060066

2016

dbSNP: rs80359083
rs80359083
A 0.700 GeneticVariation CLINVAR Functional assays for analysis of variants of uncertain significance in BRCA2. 24323938

2014

dbSNP: rs80359083
rs80359083
A 0.700 GeneticVariation CLINVAR Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. 23233716

2013

dbSNP: rs80359083
rs80359083
A 0.700 GeneticVariation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138

2013

dbSNP: rs80359083
rs80359083
A 0.700 GeneticVariation CLINVAR Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines. 23893897

2013

dbSNP: rs80359083
rs80359083
A 0.700 GeneticVariation CLINVAR Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes. 22632462

2012

dbSNP: rs80359083
rs80359083
A 0.700 GeneticVariation CLINVAR Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. 19043619

2008