ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8430T>A (p.Asn2810Lys)

dbSNP: rs1057522374
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466263 SCV000552679 uncertain significance Familial adenomatous polyposis 1 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 2810 of the APC protein (p.Asn2810Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 411493). 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 with a negative predictive value of 95%. 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.
Mendelics RCV000466263 SCV001136960 uncertain significance Familial adenomatous polyposis 1 2019-05-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179768 SCV001344510 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-28 criteria provided, single submitter clinical testing This variant is located in the APC protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with breast and/or ovarian cancer (PMID: 28528518). This variant has not been identified 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.
Ambry Genetics RCV001179768 SCV002675891 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-07 criteria provided, single submitter clinical testing The p.N2810K variant (also known as c.8430T>A), located in coding exon 15 of the APC gene, results from a T to A substitution at nucleotide position 8430. The asparagine at codon 2810 is replaced by lysine, an amino acid with similar properties. This alteration has been reported in a cohort of 85 Colombian breast and/or ovarian cancer patients and was called a variant of unknown significance (Cock-Rada AM et al. Fam. Cancer, 2018 01;17:23-30). This amino acid position is not well 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.
Baylor Genetics RCV000466263 SCV004203390 uncertain significance Familial adenomatous polyposis 1 2023-07-21 criteria provided, single submitter clinical testing

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