ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1384_1386delinsTCT (p.Pro462Ser)

dbSNP: rs2144464481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002279030 SCV002567522 uncertain significance not provided 2022-02-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15735151)
Ambry Genetics RCV002382499 SCV002702589 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-31 criteria provided, single submitter clinical testing The c.1384_1386delCCCinsTCT variant (also known as p.P462S), located in coding exon 5 of the AXIN2 gene, results from an in-frame deletion of CCC and insertion of TCT at nucleotide positions 1384 to 1386. This results in the substitution of the proline residue for a serine residue at codon 462, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be inconclusive by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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