ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.293A>G (p.Tyr98Cys)

gnomAD frequency: 0.00001  dbSNP: rs63750887
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693356 SCV000821222 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004806056 SCV005427942 uncertain significance Lynch syndrome 2024-05-17 criteria provided, single submitter clinical testing This missense variant replaces tyrosine with cysteine at codon 98 of the MSH2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). This variant does not impact MSH2 function in a 6-thioguanine sensitivity assay in haploid human cells (PMID: 33357406), and has demonstrated intact mismatch repair activity in yeast (PMID: 17720936). To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/251342 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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