ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2116del (p.Asp706fs) (rs1553369131)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558976 SCV000625352 pathogenic Hereditary nonpolyposis colon cancer 2017-01-24 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 13 of the MSH2 mRNA (c.2116delG), causing a frameshift at codon 706. This creates a premature translational stop signal (p.Asp706Thrfs*4) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. This particular variant has been reported in one individual affected with Lynch syndrome (PMID: 19324997). For these reasons, this variant has been classified as Pathogenic.

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