ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6326A>G (p.Asn2109Ser)

dbSNP: rs774352590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003535935 SCV000942672 uncertain significance Familial adenomatous polyposis 1 2021-01-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with APC-related disease. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is present in population databases (rs774352590, ExAC 0.001%). This sequence change replaces asparagine with serine at codon 2109 of the APC protein (p.Asn2109Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine.
Mendelics RCV000802827 SCV001136930 uncertain significance Familial adenomatous polyposis 1 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352368 SCV002654661 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-16 criteria provided, single submitter clinical testing The p.N2109S variant (also known as c.6326A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 6326. The asparagine at codon 2109 is replaced by serine, an amino acid with highly 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.

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