ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1077-?_*279+?del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229945 SCV000284089 likely pathogenic Lynch syndrome 2015-12-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 7-16 of the MSH2 gene. The 5' boundary is likely confined to the intronic region between exons 6 and 7. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated MSH2 protein. Gross deletions in MSH2 are known to be pathogenic. A similar deletion of exons 7-16 was reported in a single family affected with Lynch syndrome. Currently there is insufficient evidence to conclude whether this variant segregates with disease or not (PMID: 24039744). For these reasons, this variant has been classified as Likely Pathogenic.

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