ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.866A>T (p.Lys289Ile)

dbSNP: rs1555916997
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565052 SCV000669257 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-17 criteria provided, single submitter clinical testing The p.K289I variant (also known as c.866A>T), located in coding exon 7 of the CHEK2 gene, results from an A to T substitution at nucleotide position 866. The lysine at codon 289 is replaced by isoleucine, 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 Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6495 samples (12990 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.0004% (greater than 200000 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005027667 SCV005663117 uncertain significance Li-Fraumeni syndrome 2; Bone osteosarcoma; Familial prostate cancer 2024-02-29 criteria provided, single submitter clinical testing

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