ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3262A>C (p.Lys1088Gln)

dbSNP: rs1554084883
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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 RCV000563321 SCV000667482 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-14 criteria provided, single submitter clinical testing The p.K1088Q variant (also known as c.3262A>C), located in coding exon 15 of the APC gene, results from an A to C substitution at nucleotide position 3262. The lysine at codon 1088 is replaced by glutamine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 70000 alleles tested) in our clinical cohort.This amino acid position is highly 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 p.K1088Q remains unclear.

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