ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.-160A>G

gnomAD frequency: 0.00124  dbSNP: rs727503111
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV001030081 SCV001192873 benign RASopathy 2019-11-04 reviewed by expert panel curation The c.-160A>G variant in KRAS is classified as benign because it has been identified in 0.22088% (95% CI of 27/8628) of African alleles in gnomAD (BA1; https://gnomad.broadinstitute.org). This variant is not located within the splice consensus sequence and computational splice site prediction tools do not predict an impact on splicing (BP4, BP7). ACMG/AMP Criteria applied: BA1, BP4, BP7.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150899 SCV000198484 likely benign not specified 2010-09-27 criteria provided, single submitter clinical testing The -160A>G variant in KRAS has not been previously reported in the literature n or been identified by our laboratory. This variant occurs in the 5' UTR of the g ene. Although mutations in 5' UTRs of genes have been shown to affect gene regul ation, no pathogenic mutations in the 5' UTR of KRAS have been reported to date. Therefore, this variant is likely benign, although we cannot rule out that it could contribute to the clinical features observed in this individual.
Illumina Laboratory Services, Illumina RCV000357915 SCV000377757 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003390838 SCV004134574 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing KRAS: BS1
PreventionGenetics, part of Exact Sciences RCV004551311 SCV004714269 likely benign KRAS-related disorder 2023-03-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.