ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter) (rs121908702)

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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 RCV000166320 SCV000217106 pathogenic Hereditary cancer-predisposing syndrome 2015-11-03 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),Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000635628 SCV000757048 pathogenic Familial cancer of breast 2018-04-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu239*) in the CHEK2 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 an individual affected with sporadic prostate cancer (PMID: 12533788). ClinVar contains an entry for this variant (Variation ID: 5599). Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000657605 SCV000779347 pathogenic not provided 2017-12-21 criteria provided, single submitter clinical testing This variant is denoted CHEK2 c.715G>T at the cDNA level and p.Glu239Ter (E239X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAG>TAG), and is predicted to cause loss of normal protein function through protein truncation. This variant has been reported in at least one individual with prostate cancer (Dong 2003) and is considered pathogenic.
OMIM RCV000005947 SCV000026129 pathogenic Prostate cancer, somatic 2003-02-01 no assertion criteria provided literature only

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