ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.684_685CT[1] (p.Ser229fs) (rs746766787)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459758 SCV000552024 pathogenic Hereditary nonpolyposis colon cancer 2017-02-08 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 6 of the PMS2 mRNA (c.686_687delCT), causing a frameshift at codon 229. This creates a premature translational stop signal (p.Ser229Cysfs*19) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with Lynch syndrome-related cancer and homozygous in a patient with constitutional mismatch repair deficiency (PMID: 25430799, 26544533). For these reasons, this variant has been classified as Pathogenic.

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