ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)

dbSNP: rs63751029
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076876 SCV000108369 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV001854342 SCV002241865 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-02-25 criteria provided, single submitter clinical testing This variant is present in population databases (rs63751029, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 91358). This premature translational stop signal has been observed in individual(s) with constitutional mismatch repair deficiency syndrome (PMID: 16507833, 30478739). This sequence change creates a premature translational stop signal (p.Tyr181*) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816).
Sema4, Sema4 RCV002257402 SCV002530359 pathogenic Hereditary cancer-predisposing syndrome 2021-11-19 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV003452994 SCV004188662 pathogenic Lynch syndrome 4 2023-09-19 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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