ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1853del (p.Pro618fs) (rs267607984)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076301 SCV000107322 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
GeneDx RCV000481856 SCV000566069 pathogenic not provided 2015-03-26 criteria provided, single submitter clinical testing This deletion of one nucleotide in MSH2 is denoted c.1853delC at the cDNA level and p.Pro618HisfsX17 (P618HfsX17) at the protein level. The normal sequence, with the base that is deleted in brackets, is GTTC[C]ATAT. The deletion causes a frameshift, which changes a Proline to a Histidine at codon 618, and creates a premature stop codon at position 17 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. MSH2 c.1853delC has been observed in association with colorectal cancer (Kovac 2011). we consider this variant to be pathogenic.

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