ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2550_2552delinsCGCCA (p.Met850fs) (rs1064792975)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468317 SCV000552045 uncertain significance Lynch syndrome 2016-07-18 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides and inserts 5 nucleotides in exon 15 of the PMS2 mRNA (c.2550_2552delinsCGCCA), causing a frameshift at codon 850. This is expected to alter the subsequent amino acid sequences, creating a new downstream translational stop signal in the last exon of the PMS2 mRNA after extending the length of the protein by 8 additional amino acid residues (p.Met850Ilefs*22). While this is not anticipated to result in nonsense mediated decay, the effect of this change on PMS2 protein function is unknown. This variant is not present in the population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PMS2-related disease. However, the frequency data is considered unreliable due to the presence of a pseudogene that has strong homology to this region. In summary, this is a novel variant with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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