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: 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

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer. 15365993

2004

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation. 15172753

2004

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT BRCA2 germline mutations in familial pancreatic carcinoma. 12569143

2003

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. 12938098

2003

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT BRCA2 gene mutations in families with aggregations of breast and stomach cancers. 12373604

2002

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer. 11948477

2002

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. 12442274

2002

dbSNP: rs45580035
rs45580035
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation UNIPROT BRCA2 T2722R is a deleterious allele that causes exon skipping. 12145750

2002