ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.291-2A>G (rs876658584)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222975 SCV000274030 pathogenic Hereditary cancer-predisposing syndrome 2015-02-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV000632841 SCV000754037 pathogenic Peutz-Jeghers syndrome 2018-05-24 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the STK11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with Peutz-Jeghers syndrome (PJS) (PMID: 10408777). It has also been reported in an individual with PJS and an ampullary neuroendocrine tumor (PMID: 23240097). This variant is also known as –2ex2 A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 230469). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.