ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3139+8A>G

gnomAD frequency: 0.00001  dbSNP: rs193922517
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029518 SCV000052169 uncertain Cystic fibrosis 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Counsyl RCV000029518 SCV000791780 uncertain significance Cystic fibrosis 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000029518 SCV001000951 likely benign Cystic fibrosis 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000029518 SCV002607647 likely benign Cystic fibrosis 2022-10-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114205 SCV003800475 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing The CFTR c.3139+8A>G variant (rs193922517) is reported in the literature in an individual with borderline sweat chloride levels (Schrijver 2005). This variant is reported in ClinVar (Variation ID: 35863) and is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice, however these predictors are not considered high quality. However, given the lack of clinical and functional data, the significance of the c.3139+8A>G variant is uncertain at this time. References: Schrijver I et al. Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum. J Mol Diagn. 2005 May;7(2):289-99. PMID: 15858154.
PreventionGenetics, part of Exact Sciences RCV004532408 SCV004717475 likely benign CFTR-related disorder 2023-09-05 criteria provided, single submitter 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.