ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)

dbSNP: rs36038802
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814188 SCV000954589 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-09-12 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: 657559). 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.Gln160*) 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).
Ambry Genetics RCV002332681 SCV002634362 pathogenic Hereditary cancer-predisposing syndrome 2021-01-12 criteria provided, single submitter clinical testing The p.Q160* pathogenic mutation (also known as c.478C>T), located in coding exon 5 of the PMS2 gene, results from a C to T substitution at nucleotide position 478. This changes the amino acid from a glutamine to a stop codon within coding exon 5. 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. RCV003453711 SCV004187746 pathogenic Lynch syndrome 4 2023-09-18 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Baylor Genetics RCV003453711 SCV004205479 pathogenic Lynch syndrome 4 2023-08-22 criteria provided, single submitter clinical testing

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