ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1936del (p.Arg646fs)

dbSNP: rs1782934080
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045937 SCV001209813 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-02-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 843334). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg646Glyfs*19) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284203 SCV001469858 pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing This frameshift variant causes the premature termination of PMS2 protein synthesis. The variant has not been reported in the published literature. Based on the available information, the variant is classified as pathogenic.
Ambry Genetics RCV002409411 SCV002723815 pathogenic Hereditary cancer-predisposing syndrome 2019-06-29 criteria provided, single submitter clinical testing The c.1936delA pathogenic mutation, located in coding exon 11 of the PMS2 gene, results from a deletion of one nucleotide at nucleotide position 1936, causing a translational frameshift with a predicted alternate stop codon (p.R646Gfs*19). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003455186 SCV004188699 pathogenic Lynch syndrome 4 2023-09-21 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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