ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.943-2A>G (rs587779198)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491601 SCV000580627 pathogenic Hereditary cancer-predisposing syndrome 2017-06-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Counsyl RCV000663253 SCV000786478 likely pathogenic Lynch syndrome I 2018-05-08 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000076759 SCV000592481 pathogenic Lynch syndrome 2015-09-25 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076759 SCV000107800 likely pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Interrupts canonical acceptor splice site
Invitae RCV000544929 SCV000625486 likely pathogenic Hereditary nonpolyposis colon cancer 2017-06-01 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the MSH2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in an individual affected with hereditary non-polyposis colorectal cancer (HNPCC) in the Leiden Open-source Variation Database (PMID: 21520333). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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