ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1344A>T (p.Gly448=)

gnomAD frequency: 0.00001  dbSNP: rs759192470
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164596 SCV000215255 likely benign Hereditary cancer-predisposing syndrome 2014-12-09 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.
Invitae RCV000229726 SCV000285065 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000998766 SCV000517396 likely benign not provided 2018-05-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20186688)
Color Diagnostics, LLC DBA Color Health RCV000164596 SCV000911287 likely benign Hereditary cancer-predisposing syndrome 2017-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000442013 SCV000920043 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998766 SCV001155032 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing PMS2: BP4, BP7
Sema4, Sema4 RCV000164596 SCV002529784 likely benign Hereditary cancer-predisposing syndrome 2020-11-19 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000998766 SCV004218951 uncertain significance not provided 2023-06-21 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000004 (1/251476 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on PMS2 mRNA splicing yielded predictions that this variant may result in the gain of a cryptic splice site without affecting the natural splice sites . Based on the available information, we are unable to determine the clinical significance of this variant.
All of Us Research Program, National Institutes of Health RCV003995352 SCV004844239 likely benign Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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