ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1457A>G (p.Tyr486Cys)

dbSNP: rs1580564828
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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 RCV001011672 SCV001172020 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-11 criteria provided, single submitter clinical testing The p.Y486C variant (also known as c.1457A>G), located in coding exon 11 of the APC gene, results from an A to G substitution at nucleotide position 1457. The tyrosine at codon 486 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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