ClinVar Miner

Submissions for variant NM_000535.5(PMS2):c.904-?_1144+?del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076898 SCV000108394 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Large deletion
University of Washington Department of Laboratory Medicine, University of Washington RCV000076898 SCV000266121 pathogenic Lynch syndrome 2015-11-20 criteria provided, single submitter clinical testing
Invitae RCV000076898 SCV000299130 pathogenic Lynch syndrome 2016-12-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 9-10 of the PMS2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2, including gross deletions, are known to be pathogenic. A deletion of exons 9-10, along with a second pathogenic PMS2 variant, has been reported in the literature in an individual with early-onset colon cancer (PMID: 18602922). For these reasons, this variant has been classified as Pathogenic.

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