ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.478C>T (p.Gln160Ter) (rs1057521922)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434639 SCV000525072 pathogenic not provided 2018-05-24 criteria provided, single submitter clinical testing This variant is denoted RAD51D c.478C>T at the cDNA level and p.Gln160Ter (Q160X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one woman with epithelial ovarian cancer and another with triple negative breast cancer (Couch 2015, Song 2015). Based on current evidence, we consider this variant to be pathogenic.
Ambry Genetics RCV000564939 SCV000663853 pathogenic Hereditary cancer-predisposing syndrome 2017-08-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000564939 SCV000686458 pathogenic Hereditary cancer-predisposing syndrome 2017-04-18 criteria provided, single submitter clinical testing
Counsyl RCV000662974 SCV000785954 pathogenic Breast-ovarian cancer, familial 4 2018-01-22 criteria provided, single submitter clinical testing
Invitae RCV000662974 SCV000935189 pathogenic Breast-ovarian cancer, familial 4 2018-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln160*) in the RAD51D gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with breast or ovarian cancer (PMID: 26261251, 25452441). ClinVar contains an entry for this variant (Variation ID: 384322). Loss-of-function variants in RAD51D are known to be pathogenic (PMID: 21822267). For these reasons, this variant has been classified as Pathogenic.

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