ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1709dup (p.Asn570fs)

dbSNP: rs1783004175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047830 SCV001211812 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-03-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn570Lysfs*11) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 844871). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002400270 SCV002713502 pathogenic Hereditary cancer-predisposing syndrome 2020-09-17 criteria provided, single submitter clinical testing The c.1709dupA pathogenic mutation, located in coding exon 11 of the PMS2 gene, results from a duplication of A at nucleotide position 1709, causing a translational frameshift with a predicted alternate stop codon (p.N570Kfs*11). 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.
Baylor Genetics RCV003467752 SCV004207882 likely pathogenic Lynch syndrome 4 2022-10-16 criteria provided, single submitter clinical testing

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