ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2078del (p.Cys693fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002422244 SCV002727750 pathogenic Hereditary cancer-predisposing syndrome 2021-06-30 criteria provided, single submitter clinical testing The c.2078delG pathogenic mutation, located in coding exon 13 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 2078, causing a translational frameshift with a predicted alternate stop codon (p.C693Ffs*17). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
All of Us Research Program, National Institutes of Health RCV004007395 SCV004840110 likely pathogenic Lynch syndrome 2023-12-11 criteria provided, single submitter clinical testing The c.2078del (p.Cys693Phefs*17) variant of the MSH2 gene creates an premature translation termination codon. It is expected to result in an absent or disrupted protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). ClinVar has an entry for this variant (ID: 1785495). Truncating variants in MSH2 are known to be pathogenic (PMID: 15849733). Therefore, this variant is classified as likely pathogenic.

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