ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter) (rs1555917031)

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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 RCV000571653 SCV000665188 pathogenic Hereditary cancer-predisposing syndrome 2016-06-13 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 RCV000518920 SCV000618254 likely pathogenic not provided 2017-06-12 criteria provided, single submitter clinical testing This variant is denoted CHEK2 c.852C>A at the cDNA level and p.Cys284Ter (C284X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Cysteine to a premature stop codon (TGC>TGA),and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. This variant has been reported in at least one individual with hereditary breast cancer (Mannan 2016) and isconsidered likely pathogenic.

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