ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1109-13G>A

gnomAD frequency: 0.00002  dbSNP: rs568152768
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411127 SCV000489599 likely benign Peutz-Jeghers syndrome 2016-10-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000583250 SCV000691473 likely benign Hereditary cancer-predisposing syndrome 2016-08-18 criteria provided, single submitter clinical testing
GeneDx RCV001718802 SCV000729554 likely benign not provided 2020-02-25 criteria provided, single submitter clinical testing
Invitae RCV000411127 SCV002470656 likely benign Peutz-Jeghers syndrome 2024-01-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000583250 SCV002531634 benign Hereditary cancer-predisposing syndrome 2021-05-05 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000411127 SCV004017938 likely benign Peutz-Jeghers syndrome 2023-04-12 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
All of Us Research Program, National Institutes of Health RCV000411127 SCV004821571 likely benign Peutz-Jeghers syndrome 2023-12-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000411127 SCV001550396 likely benign Peutz-Jeghers syndrome no assertion criteria provided clinical testing The STK11 c.1109-13G>A variant was not identified in the literature nor was it identified in the Cosmic, LOVD 3.0, Zhejiang University, or Insight Hereditary Tumors databases. The variant was identified in dbSNP (ID: rs568152768) as "With Likely benign allele” and ClinVar (classified as likely benign by Counsyl, GeneDx, and Color Genomics). The variant was identified in control databases in 16 of 264868 chromosomes at a frequency of 0.00006 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: East Asian in 13 of 18550 chromosomes (freq: 0.0007), Other in 1 of 6206 chromosomes (freq: 0.0001), and South Asian in 2 of 29794 chromosomes (freq: 0.000067); it was not observed in the African, Latino, European, Ashkenazi Jewish, or Finnish, populations. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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.