ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2360_2361dup (p.Thr788fs)

dbSNP: rs63750803
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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) RCV000076462 SCV000107491 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Invitae RCV003593901 SCV004293903 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-03-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is also known as 2360insTT. This premature translational stop signal has been observed in individual(s) with hereditary non-polyposis colorectal cancer (PMID: 10713887). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr788Leufs*25) 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).

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