ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8248G>A (p.Glu2750Lys)

dbSNP: rs986364513
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491931 SCV000579846 uncertain significance Hereditary cancer-predisposing syndrome 2021-01-29 criteria provided, single submitter clinical testing The p.E2750K variant (also known as c.8248G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 8248. The glutamic acid at codon 2750 is replaced by lysine, an amino acid with 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.
GeneDx RCV003318584 SCV004022875 uncertain significance not provided 2023-01-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18199528)

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