ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1533G>T (p.Thr511=) (rs542520309)

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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 RCV000571759 SCV000663502 likely benign Hereditary cancer-predisposing syndrome 2016-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000571759 SCV000910366 likely benign Hereditary cancer-predisposing syndrome 2018-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000422601 SCV000520783 likely benign not specified 2015-11-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
GeneKor MSA RCV000571759 SCV000821801 likely benign Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000758629 SCV000887386 likely benign Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing PMS2 NM_000535.5:c.1533G>T has a 1.0% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 0.20 to 1, generated from evidence of seeing this as a somatic mutation in a tumor without loss of heterozygosity at the PMS2 locus. See Shirts et al 2018, PMID 29887214.

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