ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6154A>C (p.Lys2052Gln)

dbSNP: rs1554087258
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567690 SCV000672598 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-31 criteria provided, single submitter clinical testing The p.K2052Q variant (also known as c.6154A>C), located in coding exon 15 of the APC gene, results from an A to C substitution at nucleotide position 6154. The lysine at codon 2052 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003767215 SCV002220591 uncertain significance Familial adenomatous polyposis 1 2021-06-27 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 485153). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamine at codon 2052 of the APC protein (p.Lys2052Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine.

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.