ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) (rs114090343)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000121857 SCV000171046 benign not specified 2014-06-02 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.
Ambry Genetics RCV000129112 SCV000183825 likely benign Hereditary cancer-predisposing syndrome 2017-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Invitae RCV000524472 SCV000218861 benign Hereditary nonpolyposis colon cancer 2018-01-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000168196 SCV000469740 uncertain significance Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121857 SCV000596472 likely benign not specified 2016-05-25 criteria provided, single submitter clinical testing
Color RCV000129112 SCV000686198 likely benign Hereditary cancer-predisposing syndrome 2015-04-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590269 SCV000697366 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000168196 SCV000887462 uncertain significance Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing PMS2 NM_000535.5:c.379G>A has a 70.8% probability of pathogenicity based on combining prior probability from public data with likelihood ratios of 1.56 and 1.56 to 1, generated from evidence of seeing this as a somatic mutation in two independent tumors without loss of heterozygosity at the PMS2 locus. See Shirts et al 2018, PMID 29887214.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590269 SCV000889626 benign not provided 2017-12-29 criteria provided, single submitter clinical testing
ITMI RCV000121857 SCV000086059 not provided not specified 2013-09-19 no assertion provided reference population

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