ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3028A>G (p.Ser1010Gly)

dbSNP: rs1253051713
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003534618 SCV000821456 uncertain significance Familial adenomatous polyposis 1 2023-06-16 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt APC protein function. ClinVar contains an entry for this variant (Variation ID: 572247). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1010 of the APC protein (p.Ser1010Gly).
Color Diagnostics, LLC DBA Color Health RCV001187696 SCV001354566 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV001187696 SCV003996977 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-18 criteria provided, single submitter clinical testing The p.S1010G variant (also known as c.3028A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 3028. The serine at codon 1010 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV002531472 SCV004206572 uncertain significance Familial adenomatous polyposis 1 2023-05-05 criteria provided, single submitter clinical testing

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.