ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.757C>T (p.Arg253Ter) (rs137886232)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130349 SCV000185200 pathogenic Hereditary cancer-predisposing syndrome 2017-11-09 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 RCV000130349 SCV000537654 pathogenic Hereditary cancer-predisposing syndrome 2015-02-23 criteria provided, single submitter clinical testing
Counsyl RCV000023223 SCV000488562 pathogenic Breast-ovarian cancer, familial 4 2016-06-09 criteria provided, single submitter clinical testing
GeneDx RCV000235264 SCV000292680 pathogenic not provided 2018-02-23 criteria provided, single submitter clinical testing This variant is denoted RAD51D c.757C>T at the cDNA level and p.Arg253Ter (R253X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant was reported in two sisters, one each with breast and ovarian cancer, and in two unrelated patients with ovarian cancer (Loveday 2011, Norquist 2015). We consider this variant to be pathogenic.
Invitae RCV000023223 SCV000771509 pathogenic Breast-ovarian cancer, familial 4 2018-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg253*) in the RAD51D gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs137886232, ExAC 0.009%). This variant has been reported in individuals affected with ovarian cancer (PMID: 26720728), breast cancer (PMID: 28724667), and in individuals from a single family affected with breast or ovarian cancer (PMID: 21822267). ClinVar contains an entry for this variant (Variation ID: 30288). Loss-of-function variants in RAD51D are known to be pathogenic (PMID: 21822267). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000023223 SCV000044514 risk factor Breast-ovarian cancer, familial 4 2011-08-07 no assertion criteria provided literature only

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