ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2114G>A (p.Ser705Asn)

gnomAD frequency: 0.00001  dbSNP: rs752874220
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759422 SCV000888732 uncertain significance not provided 2018-02-27 criteria provided, single submitter clinical testing
Invitae RCV002533825 SCV001221551 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: 619767). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is present in population databases (rs752874220, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 705 of the APC protein (p.Ser705Asn).
Color Diagnostics, LLC DBA Color Health RCV001188847 SCV001355996 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-15 criteria provided, single submitter clinical testing This missense variant replaces serine with asparagine at codon 705 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 hereditary cancer in the literature. This variant has been identified in 2/250726 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.
Ambry Genetics RCV001188847 SCV002725993 likely benign Hereditary cancer-predisposing syndrome 2022-03-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002485968 SCV002789594 uncertain significance Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach 2022-05-24 criteria provided, single submitter clinical testing

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