ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5561A>G (p.Tyr1854Cys)

dbSNP: rs2149943277
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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 RCV002352002 SCV002649461 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-06 criteria provided, single submitter clinical testing The p.Y1854C variant (also known as c.5561A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 5561. The tyrosine at codon 1854 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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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