ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.816G>A (p.Ala272=) (rs368912987)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214094 SCV000277322 likely benign Hereditary cancer-predisposing syndrome 2015-07-16 criteria provided, single submitter clinical testing
Invitae RCV000545840 SCV000625468 uncertain significance Hereditary nonpolyposis colon cancer 2018-04-25 criteria provided, single submitter clinical testing This sequence change affects codon 272 of the MSH2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MSH2 protein. This variant is present in population databases (rs368912987, ExAC 0.009%). This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 233027). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000214094 SCV000685131 likely benign Hereditary cancer-predisposing syndrome 2017-01-24 criteria provided, single submitter clinical testing

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