ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.788_789del (p.Asn263fs)

dbSNP: rs63751614
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076708 SCV000107744 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
CeGaT Center for Human Genetics Tuebingen RCV001531919 SCV001747250 pathogenic not provided 2021-05-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584548 SCV004356631 pathogenic Hereditary cancer-predisposing syndrome 2023-07-31 criteria provided, single submitter clinical testing This variant deletes 2 nucleotides in exon 4 of the MSH2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual suspected of having Lynch syndrome (PMID: 15849733). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MSH2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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