ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.451C>T (p.Gln151Ter) (rs587781756)

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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 RCV000129970 SCV000184794 pathogenic Hereditary cancer-predisposing syndrome 2018-01-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with mutation in same gene (phase unknown),Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000129970 SCV000691340 pathogenic Hereditary cancer-predisposing syndrome 2017-07-31 criteria provided, single submitter clinical testing
Counsyl RCV000409676 SCV000489612 likely pathogenic Breast-ovarian cancer, familial 4 2016-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000409676 SCV000894111 pathogenic Breast-ovarian cancer, familial 4 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000485836 SCV000565466 pathogenic not provided 2017-09-26 criteria provided, single submitter clinical testing This pathogenic variant is denoted RAD51D c.451C>T at the cDNA level and p.Gln151Ter (Q151X) 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 individuals with breast or ovarian cancer and is considered pathogenic (Norquist 2015, Sun 2017).
Invitae RCV000409676 SCV000651748 pathogenic Breast-ovarian cancer, familial 4 2018-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln151*) 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 reported in two individuals affected with ovarian cancer (PMID: 26720728, 28591191). This variant is also known as c.511C>T and p.Q171* in the literature. ClinVar contains an entry for this variant (Variation ID: 141452). 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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