ClinVar Miner

Submissions for variant NM_000535.5(PMS2):c.804-?_2006+?del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076892 SCV000108385 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research In-frame large deletion interrupting ATPase domain [pmid:11574484 Guarne:2001]
Invitae RCV000076892 SCV000299097 pathogenic Lynch syndrome 2016-10-05 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 8-11 of the PMS2 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Deletions of exons 8-11 have been reported in individuals affected with Lynch Syndrome (PMID: 8072530, 25980754). The tumor from one patient exhibited microsatellite instability and acquired a second mutation on the wild-type allele (PMID: 8072530). Experimental studies have shown that this deletion removes a coiled-coil domain in PMS2 that mediates the interaction with MLH1 (PMID: 11292842). For these reasons, this variant has been classified as Pathogenic.

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