ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.*5G>A

gnomAD frequency: 0.00010  dbSNP: rs201342697
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
Ambry Genetics RCV000163706 SCV000214280 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-14 criteria provided, single submitter clinical testing The c.*5G>A variant is located in the 3' untranslated region (3’ UTR) of the TSC2 gene. This variant results from a G to A substitution 5 nucleotides after the last translated codon. This variant was previously reported in the SNPDatabase as rs201342697. Based on data from the 1000 Genomes Project, the A allele has an overall frequency of approximately 0.05% (1/2098) total alleles studied. The highest observed frequency was 0.59% (1/170) British alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.02% (2/12974) total alleles studied, having been observed in 0.05% (2/4382) African American alleles. To date, this alteration has been detected with an allele frequency of approximately 0.02% (greater than 20000 alleles tested) in our clinical cohort. This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of c.*5G>A remains unclear.
Illumina Laboratory Services, Illumina RCV000346660 SCV000395688 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001547283 SCV001766947 likely benign not provided 2023-07-18 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome-Nilou Lab RCV001797646 SCV002040304 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895110 SCV004717370 likely benign TSC2-related condition 2023-11-08 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.