ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 22
Download table as spreadsheet
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 2020-12-06 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
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
GeneDx RCV001711222 SCV001939394 benign not provided 2015-03-03 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
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000152884 SCV000592193 benign not specified no assertion criteria provided clinical testing The p.Val2820Val variant is not expected to have clinical significance because it does not result in a change of amino acid, is not located near a splice site, is not well conserved and is recorded as a common polymorphism in public databases. dbSNPID: rs9590940. In particular it is observed at a frequency as high as 4% in A.A population from the EPS server. Myriad reports this variant as a polymorphism (personal communication) and the UMD database recorded this variant 37x and it co-occurred with a second pathogenic variant in either BRCA1 or 2 seven times. In summary, this variant is classified as benign.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000152884 SCV001799616 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000152884 SCV001906024 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000152884 SCV001929633 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000152884 SCV001952124 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.