ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.876dup (p.Asp293Ter) (rs772683219)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213838 SCV000278630 pathogenic Hereditary cancer-predisposing syndrome 2018-01-25 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)
GeneDx RCV000657826 SCV000779582 pathogenic not provided 2017-08-10 criteria provided, single submitter clinical testing This variant is denoted CHEK2 c.876dupT->T at the cDNA level and p.Asp293Ter (D293X) at the protein level. The substitution creates a nonsense variant, which changes an Aspartic Acid to a premature stop codon (GAT>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has not, to our knowledge, been published in the literature as a germline variant; however, it has been reported as a somatic variant in a diffuse large B cell lymphoma sample (de Miranda 2013) and is considered pathogenic.

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