ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.851C>G (p.Ser284Ter) (rs587782898)

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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 RCV000215676 SCV000278078 pathogenic Hereditary cancer-predisposing syndrome 2017-01-26 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000227122 SCV000285156 pathogenic Hereditary nonpolyposis colon cancer 2019-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser284*) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PMS2-related disease. ClinVar contains an entry for this variant (Variation ID: 233656). Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000519203 SCV000617219 pathogenic not provided 2017-03-28 criteria provided, single submitter clinical testing This variant is denoted PMS2 c.851C>G at the cDNA level and p.Ser284Ter (S284X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>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 early-onset rectal cancer (Wald 2016). We consider this variant to be pathogenic.

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