Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359031
rs80359031
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 GeneticVariation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584

2010
dbSNP: rs80359031
rs80359031
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Functional assays for classification of BRCA2 variants of uncertain significance. 18451181

2008
dbSNP: rs80359031
rs80359031
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 GeneticVariation CLINVAR Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes. 21965345

2011
dbSNP: rs80359031
rs80359031
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 GeneticVariation CLINVAR Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. 21520273

2011
dbSNP: rs80359031
rs80359031
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. 28339459

2017
dbSNP: rs80359031
rs80359031
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. 20215541

2010
dbSNP: rs80359031
rs80359031
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 GeneticVariation CLINVAR Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. 16489001

2006