ClinVar Miner

Submissions for variant NC_000002.12:g.(?_47470959)_(47482955_?)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 RCV000548206 SCV000624573 pathogenic Hereditary nonpolyposis colorectal neoplasms 2017-07-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 11-16 of the MSH2 gene. The 5' boundary is likely confined to intron 10. 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 protein product or disrupt mRNA translation. Similar deletions of exons 11-16 have been reported in individuals affected with Lynch syndrome, with evidence of segregation with disease (PMID: 17582678, 24039744). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.

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