ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1071del (p.Ser358fs)

dbSNP: rs1783529876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211703 SCV001383256 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser358Leufs*2) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PMS2-related conditions. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002418721 SCV002721606 pathogenic Hereditary cancer-predisposing syndrome 2022-05-17 criteria provided, single submitter clinical testing The c.1071delC variant, located in coding exon 10 of the PMS2 gene, results from a deletion of one nucleotide at nucleotide position 1071, causing a translational frameshift with a predicted alternate stop codon (p.S358Lfs*2). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. RCV003449666 SCV004188672 pathogenic Lynch syndrome 4 2023-09-20 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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