ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6128T>A (p.Ile2043Lys)

dbSNP: rs876660288
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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 RCV000216471 SCV000277586 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-10 criteria provided, single submitter clinical testing Thep.I2043Kvariant (also known as c.6128T>A), located in codingexon15 of theAPCgene, results from a T to A substitution at nucleotide position 6128. Theisoleucineatcodon2043 is replaced by lysine, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI ExomeSequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6501 samples (13002 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.003% (greater than 32000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging and tolerated byPolyPhenand SIFTinsilicoanalyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.I2043K remains unclear.

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