Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897759
rs28897759
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation BEFREE We analyzed a missense VUS located in BRCA2 (p.Asn3124Ile; HGVS: BRCA2 c.9371A > T) present in seven independent high-risk breast cancer families that were counseled and genetically tested in South-West Germany. 24728577

2014

dbSNP: rs28897759
rs28897759
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
T 0.810 GeneticVariation CLINVAR

dbSNP: rs28897759
rs28897759
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT

dbSNP: rs28897743
rs28897743
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
0.800 GeneticVariation UNIPROT A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138

2013

dbSNP: rs28897743
rs28897743
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
0.800 GeneticVariation UNIPROT A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596

2011

dbSNP: rs28897743
rs28897743
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
0.800 GeneticVariation UNIPROT Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 16825431

2007

dbSNP: rs28897743
rs28897743
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
0.800 GeneticVariation UNIPROT Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 14670928

2004

dbSNP: rs28897743
rs28897743
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
0.800 GeneticVariation UNIPROT Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. 14559878

2003

dbSNP: rs28897743
rs28897743
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
0.800 GeneticVariation UNIPROT Biallelic inactivation of BRCA2 in Fanconi anemia. 12065746

2002

dbSNP: rs28897743
rs28897743
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
A 0.800 CausalMutation CLINVAR

dbSNP: rs28897743
rs28897743
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs41293511
rs41293511
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014

dbSNP: rs41293511
rs41293511
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014

dbSNP: rs41293511
rs41293511
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008

dbSNP: rs41293511
rs41293511
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007

dbSNP: rs41293511
rs41293511
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004

dbSNP: rs41293511
rs41293511
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
C 0.800 CausalMutation CLINVAR

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. 16793542

2006

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. 15026808

2004

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. 14722926

2004