ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.945G>A (p.Gly315=)

gnomAD frequency: 0.00001  dbSNP: rs142316409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001434442 SCV006088928 benign Breast-ovarian cancer, familial, susceptibility to, 4 2025-02-25 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Sema4, Sema4 RCV000218963 SCV002527056 likely benign Hereditary cancer-predisposing syndrome 2021-06-27 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV001434442 SCV001637248 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000218963 SCV000274733 likely benign Hereditary cancer-predisposing syndrome 2015-03-23 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.

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