ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.7C>A (p.Arg3=)

dbSNP: rs763939668
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000501515 SCV000697387 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001027040 SCV001189539 likely benign Hereditary cancer-predisposing syndrome 2019-03-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001353806 SCV000592915 likely benign Endometrial carcinoma no assertion criteria provided clinical testing PMS2, Exon01, c.7C>A, p.Arg3Arg, (Alias: None), Variant of Unknown Significance (ACMG 3)rnThe PMS2 c.7C>A (p.Arg3Arg) variant was not identified in the literature nor was it identified in the GeneInsight, HGMD, COSMIC, Mut, MMRUV, InSiGHT Colon Cancer or Zheilang Colon Cancer databases. This variant was not listed in the dbSNP database and no frequency information was provided, thus the prevalence of this variant in the general population could not be determined. The p.Arg3Arg variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site; however it cannot be decisively concluded as benign. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance (likely benign).

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