ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8029G>A (p.Gly2677Ser)

dbSNP: rs750174880
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235395 SCV000294054 uncertain significance not provided 2023-09-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18199528, 34371384, 29684080)
Ambry Genetics RCV000565628 SCV000667308 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-17 criteria provided, single submitter clinical testing The p.G2677S variant (also known as c.8029G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 8029. The glycine at codon 2677 is replaced by serine, an amino acid with similar properties. In a study of whole-exome sequencing in patients with features of Cowden syndrome (CS) or Bannayan-Riley-Ruvalcaba syndrome (BRRS) and negative PTEN testing, this alteration was identified in 0/87 patients with CS or BRRS and 1/3476 patients from The Cancer Genome Atlas (TCGA) (Yehia L et al. PLoS Genet, 2018 04;14:e1007352). This amino acid position is 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.
Color Diagnostics, LLC DBA Color Health RCV000565628 SCV000687161 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-19 criteria provided, single submitter clinical testing
Invitae RCV003535666 SCV000833721 uncertain significance Familial adenomatous polyposis 1 2023-09-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2677 of the APC protein (p.Gly2677Ser). This variant is present in population databases (rs750174880, gnomAD 0.0009%). 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: 246482). 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. 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.
Sema4, Sema4 RCV000565628 SCV002531481 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-13 criteria provided, single submitter curation
Baylor Genetics RCV002518467 SCV004209709 uncertain significance Familial adenomatous polyposis 1 2023-08-21 criteria provided, single submitter clinical testing

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