ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.366+2T>C

dbSNP: rs1558457533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000758597 SCV000887347 pathogenic Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing MSH2 NM_000251.2:c.366+2T>C has a 99.9% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 26.5 to 1, generated from evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the MSH2 locus. See Shirts et al 2018, PMID 29887214.
Ambry Genetics RCV002458361 SCV002614004 likely pathogenic Hereditary cancer-predisposing syndrome 2019-06-11 criteria provided, single submitter clinical testing The c.366+2T>C intronic variant results from a T to C substitution two nucleotides after coding exon 2 in the MSH2 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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