ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.-4A>G

gnomAD frequency: 0.00005  dbSNP: rs544503598
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166563 SCV000217365 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-28 criteria provided, single submitter clinical testing The c.-4A>G variant is located in the 5' untranslated region (5’ UTR) of the PMS2 gene. This variant results from an A to G substitution 4 bases upstream from the first translated codon. This nucleotide position is not well conserved in available vertebrate species. Based on the available evidence, the clinical significance of this alteration remains unclear.
Illumina Laboratory Services, Illumina RCV000406414 SCV000469749 uncertain significance Lynch syndrome 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001704221 SCV000729479 likely benign not provided 2022-09-20 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Color Diagnostics, LLC DBA Color Health RCV000166563 SCV000910917 likely benign Hereditary cancer-predisposing syndrome 2017-06-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995513 SCV004833700 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing

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