ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) (rs9590940)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113937 SCV000245176 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.04675 (African), derived from 1000 genomes (2012-04-30).
Invitae RCV000045525 SCV000073538 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000113937 SCV000154064 benign Breast-ovarian cancer, familial 2 2014-01-09 criteria provided, single submitter literature only
Ambry Genetics RCV000128993 SCV000172887 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Michigan Medical Genetics Laboratories,University of Michigan RCV000113937 SCV000196013 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152884 SCV000202303 benign not specified 2015-02-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404467 SCV000383783 benign Fanconi anemia, complementation group D1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000113937 SCV000383784 benign Breast-ovarian cancer, familial 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Integrated Genetics/Laboratory Corporation of America RCV000045525 SCV000494344 benign Hereditary breast and ovarian cancer syndrome 2014-01-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000470439 SCV000541033 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000113937 SCV000575736 likely benign Breast-ovarian cancer, familial 2 2015-09-24 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000152884 SCV000592193 benign not specified 2013-05-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283100 SCV000602770 benign none provided 2020-03-20 criteria provided, single submitter clinical testing
Color Health, Inc RCV000128993 SCV000683967 benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152884 SCV000805780 benign not specified 2016-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000152884 SCV001470246 benign not specified 2020-06-16 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113937 SCV000147369 uncertain significance Breast-ovarian cancer, familial 2 2007-01-18 no assertion criteria provided clinical testing

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