ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8161C>A (p.Arg2721Ser)

dbSNP: rs587782312
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562944 SCV000676371 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-09 criteria provided, single submitter clinical testing The p.R2721S variant (also known as c.8161C>A), located in coding exon 15 of the APC gene, results from a C to A substitution at nucleotide position 8161. The arginine at codon 2721 is replaced by serine, an amino acid with dissimilar properties. 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.

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