ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2211-2A>C

dbSNP: rs267608001
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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) RCV000076431 SCV000107460 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site
Neuberg Centre For Genomic Medicine, NCGM RCV001823111 SCV002073147 likely pathogenic Lynch syndrome 1 criteria provided, single submitter clinical testing The splice acceptor variant c.2211-2A>C in MSH2 (NM_000251.3) has been previously reported in affected individuals (Zhang Li et al). The variant has been classified as Likely Pathogenic in ClinVar by an expert review panel. The c.2211-2A>C variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant affects an invariant splice site and hence is expected to cause protein truncation. For these reasons, this variant has been classified as Likely Pathogenic.

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