Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359198
rs80359198
BRCA2
G 0.700 CausalMutation CLINVAR Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide. 29439820

2018
dbSNP: rs80359198
rs80359198
BRCA2
G 0.700 CausalMutation CLINVAR Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. 29394989

2018
dbSNP: rs80359198
rs80359198
BRCA2
G 0.700 CausalMutation CLINVAR Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers. 28477318

2017
dbSNP: rs80359198
rs80359198
BRCA2
G 0.700 CausalMutation CLINVAR Functional assays for analysis of variants of uncertain significance in BRCA2. 24323938

2014
dbSNP: rs80359198
rs80359198
BRCA2
G 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: rs80359198
rs80359198
BRCA2
G 0.700 CausalMutation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138

2013
dbSNP: rs80359198
rs80359198
BRCA2
G 0.700 CausalMutation 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: rs80359198
rs80359198
BRCA2
G 0.700 CausalMutation CLINVAR Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. 21990165

2012
dbSNP: rs80359198
rs80359198
BRCA2
G 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: rs80359198
rs80359198
BRCA2
G 0.700 CausalMutation CLINVAR Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. 19043619

2008
dbSNP: rs80359198
rs80359198
BRCA2
G 0.700 CausalMutation CLINVAR Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants. 17899372

2008
dbSNP: rs80359198
rs80359198
BRCA2
G 0.700 CausalMutation CLINVAR A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331

2007