ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) (rs587782070)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130559 SCV000185430 pathogenic Hereditary cancer-predisposing syndrome 2017-08-31 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 RCV000130559 SCV000911685 pathogenic Hereditary cancer-predisposing syndrome 2017-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000377793 SCV000329277 pathogenic not provided 2019-01-07 criteria provided, single submitter clinical testing This variant is denoted CHEK2 c.279G>A at the cDNA level and p.Trp93Ter (W93X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TGA), 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 at least one individual with breast cancer (Decker 2017) and is considered pathogenic.
Invitae RCV000199638 SCV000253901 pathogenic Familial cancer of breast 2018-05-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp93*) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs587782070, ExAC 0.009%). This variant has been reported in individuals undergoing multi-gene panel testing for breast cancer risk (PMID: 27751358). ClinVar contains an entry for this variant (Variation ID: 141866). Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). For these reasons, this variant has been classified as Pathogenic.

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