ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2294del (p.Ala765fs)

dbSNP: rs63750346
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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) RCV000076453 SCV000107483 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Invitae RCV002514352 SCV003524609 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-05-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 9218993). ClinVar contains an entry for this variant (Variation ID: 90951). This sequence change creates a premature translational stop signal (p.Ala765Valfs*47) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (gnomAD no frequency).

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