ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2422G>A (p.Ala808Thr)

gnomAD frequency: 0.00001  dbSNP: rs1306035279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015471 SCV001176307 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-21 criteria provided, single submitter clinical testing The p.A808T variant (also known as c.2422G>A), located in coding exon 14 of the PMS2 gene, results from a G to A substitution at nucleotide position 2422. The alanine at codon 808 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002505544 SCV002815121 uncertain significance Lynch syndrome 4; Mismatch repair cancer syndrome 4 2022-05-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001015471 SCV004358988 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-23 criteria provided, single submitter clinical testing This missense variant replaces alanine with threonine at codon 808 of the PMS2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 3/217656 chromosomes 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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