ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1864_1865del (p.Met622fs) (rs1060503137)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469787 SCV000552014 pathogenic Hereditary nonpolyposis colon cancer 2019-05-21 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 11 of the PMS2 mRNA (c.1864_1865delAT), causing a frameshift at codon 622. This creates a premature translational stop signal (p.Met622Glufs*5) 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 with colorectal cancer, and was shown to be derived from the PMS2CL pseudogene by a gene conversion event (PMID: 22585707). It has also been reported in an individual with a PMS2-related disease whose tumor was absent for PMS2 expression (PMID: 23012243). In the literature, this variant is also known as c.1863_1864delTA. For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506027 SCV000601830 pathogenic not provided 2017-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572864 SCV000670813 pathogenic Hereditary cancer-predisposing syndrome 2019-09-03 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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