ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) (rs143277125)

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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 RCV000570620 SCV000670801 pathogenic Hereditary cancer-predisposing syndrome 2016-07-06 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)
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076902 SCV000108399 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000686600 SCV000814125 pathogenic Hereditary nonpolyposis colon cancer 2019-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln317*) in the PMS2 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 colorectal cancer (PMID: 18602922). In addition, it has been reported as homozygous in an individual affected with constitutional mismatch repair deficiency (CMMR-D) syndrome. This individual's sibling, who carries at least one mutant allele, was affected with T-cell lymphoma (PMID: 18602922, 19283792). ClinVar contains an entry for this variant (Variation ID: 91383). Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.

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