ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.219_220dup (p.Gly74fs)

dbSNP: rs587779336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076847 SCV000108335 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV003593905 SCV004294449 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly74Valfs*3) 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 endometrial cancer, ovarian cancer and/or Lynch syndrome (PMID: 20186688, 22306203, 27435373). For these reasons, this variant has been classified as Pathogenic.

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