ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.182del (p.Tyr61fs)

dbSNP: rs63750793
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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) RCV000076829 SCV000108316 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV002514362 SCV003439937 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-04-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 91316). This sequence change creates a premature translational stop signal (p.Tyr61Leufs*15) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 18030674). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003452987 SCV004188717 pathogenic Lynch syndrome 4 2023-09-18 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
OMIM RCV000009828 SCV000030049 pathogenic Mismatch repair cancer syndrome 4 2008-02-01 no assertion criteria provided literature only

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