ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6441C>T (p.His2147=)

dbSNP: rs80358879
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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) RCV000495340 SCV000578891 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/).
Ambry Genetics RCV000218311 SCV000276427 likely benign Hereditary cancer-predisposing syndrome 2015-06-09 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.
GeneDx RCV000428121 SCV000521376 likely benign not specified 2017-09-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000976262 SCV001124161 likely benign Hereditary breast ovarian cancer syndrome 2024-12-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000218311 SCV001339980 likely benign Hereditary cancer-predisposing syndrome 2019-02-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000428121 SCV005204185 likely benign not specified 2024-06-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004804902 SCV005424531 likely benign BRCA2-related cancer predisposition 2024-03-05 criteria provided, single submitter clinical testing

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