Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation 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
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation CLINVAR Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer. 29368341

2018
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation CLINVAR Ipilimumab plus nivolumab and DNA-repair defects in AR-V7-expressing metastatic prostate cancer. 29983880

2018
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation CLINVAR Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. 29394989

2018
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation 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
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation CLINVAR Functional assays for analysis of variants of uncertain significance in BRCA2. 24323938

2014
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation CLINVAR Cycling with BRCA2 from DNA repair to mitosis. 25447315

2014
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation 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
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		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
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138

2013
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 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: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation CLINVAR Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. 21990165

2012
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		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
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		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
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 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: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 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
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. 18951446

2008
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation CLINVAR Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. 19043619

2008
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR Functional assays for classification of BRCA2 variants of uncertain significance. 18451181

2008
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation CLINVAR Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. 18951446

2008
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Functional assays for classification of BRCA2 variants of uncertain significance. 18451181

2008
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation CLINVAR Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants. 17899372

2008
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation CLINVAR Functional assays for classification of BRCA2 variants of uncertain significance. 18451181

2008
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. 18951446

2008
dbSNP: rs80359198
rs80359198
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		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