ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.889T>G (p.Tyr297Asp)

dbSNP: rs786203554
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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 RCV000166914 SCV000217733 uncertain significance Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing The p.Y297D variant (also known as c.889T>G), located in coding exon 7 of the CHEK2 gene, results from a T to G substitution at nucleotide position 889. The tyrosine at codon 297 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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