ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.741C>T (p.Ile247=) (rs276174892)

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Total submissions: 7
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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) RCV000114115 SCV000578735 likely benign Breast-ovarian cancer, familial 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/).
Ambry Genetics RCV000219869 SCV000278523 likely benign Hereditary cancer-predisposing syndrome 2015-09-24 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Color Health, Inc RCV000219869 SCV000906880 likely benign Hereditary cancer-predisposing syndrome 2017-11-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170223 SCV001332783 likely benign Breast and/or ovarian cancer 2018-05-16 criteria provided, single submitter clinical testing
Invitae RCV001478628 SCV001682901 likely benign Hereditary breast and ovarian cancer syndrome 2020-09-10 criteria provided, single submitter clinical testing
GeneDx RCV001618238 SCV001842916 benign not provided 2015-07-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114115 SCV000147646 benign Breast-ovarian cancer, familial 2 2010-10-28 no assertion criteria provided clinical testing

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