ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.212-2A>C

dbSNP: rs267607917
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050038 SCV001214125 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-10-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in activation of two cryptic splice sites and introduces a premature termination codon (PMID: 29568967). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 846676). Disruption of this splice site has been observed in individuals with clinical features of Lynch syndrome (PMID: 9311737, 26517685, 29568967). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 1 of the MSH2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.

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