ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.-135G>A

gnomAD frequency: 0.00001  dbSNP: rs876661192
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000221049 SCV000279757 uncertain significance not provided 2016-01-04 criteria provided, single submitter clinical testing This variant is denoted AXIN2 c.-135G>A, and describes a nucleotide substitution 135 base pairs upstream of the AXIN2 ATG translational start site in the 5' untranslated region (UTR). The surrounding sequence, with the base that is substituted in braces, is CGCC[G/A]AAGG. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. AXIN2 c.-135C>A does not appear to affect the start codon or the Kozak translational consensus sequence. The guanine (G) nucleotide that is altered is conserved in mammals. At this time, we consider AXIN2 c.-135G>A to be a variant of uncertain significance.

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