Gene: BRCA2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507303
rs397507303
BRCA2
T 0.700 CausalMutation CLINVAR Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. 29707112

2018
dbSNP: rs397507327
rs397507327
BRCA2
T 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs81002805
rs81002805
BRCA2
C 0.700 CausalMutation CLINVAR Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. 29707112

2018
dbSNP: rs81002840
rs81002840
BRCA2
A 0.700 CausalMutation CLINVAR Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. 29707112

2018
dbSNP: rs81002840
rs81002840
BRCA2
C 0.700 CausalMutation CLINVAR Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. 29707112

2018
dbSNP: rs397507327
rs397507327
BRCA2
T 0.700 CausalMutation CLINVAR Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 28678401

2017
dbSNP: rs397507954
rs397507954
BRCA2
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
BRCA2
G 0.700 CausalMutation CLINVAR Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. 28111427

2017
dbSNP: rs41293513
rs41293513
BRCA2
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: rs80358650
rs80358650
BRCA2
A 0.700 CausalMutation CLINVAR BRCA1/2 missense mutations and the value of in-silico analyses. 28807866

2017
dbSNP: rs80358893
rs80358893
BRCA2
G 0.700 CausalMutation CLINVAR Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. 29348823

2017
dbSNP: rs80358928
rs80358928
BRCA2
T 0.700 CausalMutation CLINVAR Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. 28637432

2017
dbSNP: rs80359035
rs80359035
BRCA2
T 0.700 GeneticVariation CLINVAR The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing. 28294317

2017
dbSNP: rs80359035
rs80359035
BRCA2
T 0.700 GeneticVariation CLINVAR BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer. 28176296

2017
dbSNP: rs80359035
rs80359035
BRCA2
T 0.700 GeneticVariation CLINVAR Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. 28339459

2017
dbSNP: rs80359146
rs80359146
BRCA2
G 0.700 CausalMutation CLINVAR Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients. 28205045

2017
dbSNP: rs80359492
rs80359492
BRCA2
A 0.700 CausalMutation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555

2017
dbSNP: rs1057517565
rs1057517565
BRCA2
T 0.700 GeneticVariation CLINVAR Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. 26187060

2016
dbSNP: rs397507300
rs397507300
BRCA2
T 0.700 GeneticVariation CLINVAR BRCA-associated pancreatico-biliary neoplasms: Four cases illustrating the emerging clinical impact of genotyping. 26004055

2016
dbSNP: rs397507320
rs397507320
BRCA2
A 0.700 CausalMutation CLINVAR RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins. 26635394

2016
dbSNP: rs397507623
rs397507623
BRCA2
A 0.700 CausalMutation CLINVAR Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland. 26843898

2016
dbSNP: rs397507954
rs397507954
BRCA2
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
BRCA2
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
BRCA2
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
BRCA2
G 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer. 26439132

2016