ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.804-15A>G

gnomAD frequency: 0.00001  dbSNP: rs1448706115
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581748 SCV000691117 likely benign Hereditary cancer-predisposing syndrome 2015-06-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001293510 SCV001482098 uncertain significance not specified 2021-02-15 criteria provided, single submitter clinical testing Variant summary: PMS2 c.804-15A>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 1/1 computational tools predict no significant impact on normal splicing. However, this prediction has yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.3e-05 in 150918 control chromosomes (gnomAD v3.1 genomes dataset). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.804-15A>G in individuals affected with Hereditary Nonpolyposis Colorectal Cancer and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV001662632 SCV001874292 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002061909 SCV002324624 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002371 SCV004822628 likely benign Lynch syndrome 2023-03-23 criteria provided, single submitter clinical testing

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