BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Hereditary Breast and Ovarian Cancer Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 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: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing. 26757417 2016
dbSNP: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. 27741520 2016
dbSNP: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel. 27157322 2016
dbSNP: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. 24249303 2015
dbSNP: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing. 25802882 2015
dbSNP: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081 2013
dbSNP: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
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: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045 2012
dbSNP: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. 18424508 2008
dbSNP: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. 16489001 2006
dbSNP: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. 15290653 2004
dbSNP: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR BRCA2 T2722R is a deleterious allele that causes exon skipping. 12145750 2002
dbSNP: rs397507954
rs397507954
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 GeneticVariation CLINVAR