ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.750G>A (p.Val250=)

gnomAD frequency: 0.00005  dbSNP: rs143214959
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Total submissions: 16
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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) RCV000144219 SCV000578875 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Invitae RCV001082953 SCV000166186 benign Hereditary breast ovarian cancer syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000123940 SCV000167327 benign not specified 2013-09-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000162788 SCV000213266 likely benign Hereditary cancer-predisposing syndrome 2014-11-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000144219 SCV000267740 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2016-04-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590515 SCV000600751 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162788 SCV000683881 benign Hereditary cancer-predisposing syndrome 2016-06-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123940 SCV000695073 likely benign not specified 2021-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162788 SCV002531866 likely benign Hereditary cancer-predisposing syndrome 2020-09-16 criteria provided, single submitter curation
Genetics and Molecular Pathology, SA Pathology RCV000144219 SCV002556842 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2020-05-18 criteria provided, single submitter clinical testing The BRCA2 c.750G>A variant is classified as Likely Benign (BP2, BP6)
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000123940 SCV004242738 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542927 SCV004788948 likely benign BRCA2-related disorder 2020-03-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV000144219 SCV004846818 benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-11-20 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000144219 SCV000189316 benign Breast-ovarian cancer, familial, susceptibility to, 2 2011-03-01 no assertion criteria provided clinical testing
Department of Medical Genetics, University Hospital of North Norway RCV000144219 SCV000301444 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2016-05-01 no assertion criteria provided clinical testing
King Laboratory, University of Washington RCV000123940 SCV001251295 benign not specified 2019-09-01 no assertion criteria provided research

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