ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.859dup (p.Arg287fs)

dbSNP: rs1554300763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230427 SCV000551953 pathogenic Hereditary nonpolyposis colorectal neoplasms 2016-11-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This sequence change inserts 1 nucleotide in exon 8 of the PMS2 mRNA (c.859dupA), causing a frameshift at codon 287. This creates a premature translational stop signal (p.Arg287Lysfs*12) and is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002446830 SCV002679928 pathogenic Hereditary cancer-predisposing syndrome 2016-10-31 criteria provided, single submitter clinical testing The c.859dupA pathogenic mutation, located in coding exon 8 of the PMS2 gene, results from a duplication of A at nucleotide position 859, causing a translational frameshift with a predicted alternate stop codon (p.R287Kfs*12). 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.

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