ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) (rs768384031)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218911 SCV000277083 pathogenic Hereditary cancer-predisposing syndrome 2015-07-15 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)
Counsyl RCV000663138 SCV000786282 likely pathogenic Familial cancer of breast 2018-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000222824 SCV000279769 pathogenic not provided 2018-06-25 criteria provided, single submitter clinical testing This variant is denoted CHEK2 c.205C>T at the cDNA level and p.Gln69Ter (Q69X) 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. Although this variant has not, to our knowledge, been reported in the literature as a germline variant, it is considered pathogenic.

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