ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) (rs200313585)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076828 SCV000108315 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
GeneDx RCV000200992 SCV000149574 likely benign not specified 2018-01-16 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 RCV000115665 SCV000186067 likely benign Hereditary cancer-predisposing syndrome 2018-09-06 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Invitae RCV000587897 SCV000218776 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587897 SCV000697313 likely benign not provided 2016-02-11 criteria provided, single submitter clinical testing Variant summary: The c.180C>G in PMS2 gene is a missense variant that involves a non-conserved nucleotide and 4/5 in silico tools predict benign outcome. The variant is present in the broad control population dataset of ExAC predominantly in individuals of European descent, in both Finnish and non-Finnish cohorts at a frequency 0.86% and 0.1%, respectively, including 2 homozygotes. In functional studies this variant was shown not to affect splicing and ability to restore mismatch repair activity. The variant has been classified as Likely Benign/Benign by several reputable databases/clinical laboratories. Taking together, the variant was classified as Likely Benign.
Color RCV000115665 SCV000910589 benign Hereditary cancer-predisposing syndrome 2016-05-09 criteria provided, single submitter clinical testing
Mendelics RCV000987852 SCV001137330 likely benign Hereditary nonpolyposis colorectal cancer type 4 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000587897 SCV001155039 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing

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