ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) (rs11571652)

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Total submissions: 14
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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) RCV000495455 SCV000578010 benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.04; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0048 (African), derived from ExAC (2014-12-17).
GeneDx RCV000173955 SCV000167337 benign not specified 2014-02-25 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 RCV000163054 SCV000213548 likely benign Hereditary cancer-predisposing syndrome 2014-09-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173955 SCV000225149 benign not specified 2015-02-17 criteria provided, single submitter clinical testing
Invitae RCV000204497 SCV000261104 benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000474400 SCV000541059 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000173955 SCV000591782 likely benign not specified 2016-02-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000173955 SCV000600494 likely benign not specified 2017-02-06 criteria provided, single submitter clinical testing
Color RCV000163054 SCV000683461 benign Hereditary cancer-predisposing syndrome 2016-01-06 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000495455 SCV000744421 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173955 SCV000805658 benign not specified 2017-05-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757036 SCV000885082 likely benign not provided 2017-06-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000757036 SCV000888993 benign not provided 2018-02-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000495455 SCV000745676 likely benign Breast-ovarian cancer, familial 2 2017-05-21 no assertion criteria provided clinical testing

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