ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6106G>A (p.Asp2036Asn)

gnomAD frequency: 0.00002  dbSNP: rs1312511221
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
Ambry Genetics RCV000563143 SCV000672543 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-02 criteria provided, single submitter clinical testing The p.D2036N variant (also known as c.6106G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 6106. The aspartic acid at codon 2036 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV004562463 SCV001385054 benign Familial adenomatous polyposis 1 2024-06-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000563143 SCV004357491 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-22 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 2036 of the APC protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders in the literature. This variant has been identified in 1/250836 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004001101 SCV004838144 uncertain significance Classic or attenuated familial adenomatous polyposis 2023-12-18 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 2036 of the APC protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders in the literature. This variant has been identified in 1/250836 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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.