ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.537+5A>G

dbSNP: rs1562688519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704350 SCV000833295 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023988 SCV001185937 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-12 criteria provided, single submitter clinical testing The c.537+5A>G intronic variant results from an A to G substitution 5 nucleotides after coding exon 5 in the PMS2 gene. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). This nucleotide position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV001023988 SCV001349988 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-10 criteria provided, single submitter clinical testing This variant causes an A to G nucleotide substitution at the +5 position of intron 5 of the PMS2 gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with PMS2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV003999751 SCV004836844 uncertain significance Lynch syndrome 2023-10-02 criteria provided, single submitter clinical testing This variant causes an A to G nucleotide substitution at the +5 position of intron 5 of the PMS2 gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with PMS2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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