ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1204_1236dup (p.Asn412_Ser413insGluGluArgGluGlySerGluLeuThrLeuAsn)

dbSNP: rs2144467985
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002259266 SCV002537581 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-07 criteria provided, single submitter curation
Ambry Genetics RCV002259266 SCV002654051 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-30 criteria provided, single submitter clinical testing The c.1204_1236dup33 variant (also known as p.E402_N412dup), located in coding exon 5 of the AXIN2 gene, results from an in-frame duplication of 33 nucleotides at nucleotide positions 1204 to 1236. This results in the duplication of 11 extra residues (EEREGSELTLN) between codons 402 and 412. This amino acid region is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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