ClinVar Miner

Submissions for variant NC_000002.12:g.(?_47408395)_(47429947_?)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 RCV000630434 SCV000751390 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-01-08 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 2-7 of the MSH2 gene. It preserves the integrity of the reading frame. Deletions of exons 2-7 have been reported in individuals and families affected with Lynch syndrome (PMID: 15942939, 21642682, 20587412, 16541406). ClinVar contains an entry for this deletion (Variation ID: 90896). Deletions of exons 2-7 eliminate the entire connector domain, which is encoded by exons 3-5 of the MSH2 mRNA. The connector domain is required for mismatch repair (MMR) complex formation, which is necessary for adequate MSH2 mismatch repair protein function (PMID: 18822302, 18383312, 20080788, 26163658, 21454657). For these reasons, this variant has been classified as Pathogenic.

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