ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1144+2T>A

dbSNP: rs267608158
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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) RCV000076796 SCV000108278 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site
Myriad Genetics, Inc. RCV000009822 SCV004187594 likely pathogenic Lynch syndrome 4 2023-09-20 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.
OMIM RCV000009822 SCV000030043 pathogenic Lynch syndrome 4 2006-02-01 no assertion criteria provided literature only

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