ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2239_2242AGAA[1] (p.Lys748fs) (rs267608173)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076848 SCV000108337 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Counsyl RCV000409351 SCV000488736 pathogenic Hereditary nonpolyposis colorectal cancer type 4 2016-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575018 SCV000674233 pathogenic Hereditary cancer-predisposing syndrome 2019-02-22 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV001239541 SCV001412420 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-11-08 criteria provided, single submitter clinical testing The location of this variant in this individual is uncertain. It could create a nonsense change (c.2243_2246del, p.Lys748Metfs*19) in exon 13 of the PMS2 gene, or a variant in exon 4 of the PMS2CL pseudogene. Until the location of this sequence change can be resolved, the clinical significance of this variant remains uncertain. It has been classified as a Variant of Uncertain Significance.

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