AXIN2 p.Glu698Ter
c.2092G>T · rs2144440026 · VCV1027576
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
2
oligodontia-cancer predisposition syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 8 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 5.9 | GERP 0.98, phastCons 1 |
| Overall | ||
| CADD | 47.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- AXIN2
- Protein
- p.Glu698Ter
- Coding
- c.2092G>T
- MANE Select
- NM_004655
- dbSNP
- rs2144440026
- Type
- single nucleotide variant
- Location
- chr17:65536369 (GRCh38)
- Gene constraint
- LOEUF 0.397 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 61.71 · 1 PDB
Similar variants
- AXIN2 p.Glu698Asp Uncertain significance ★★ ⚠ same residue
- AXIN2 p.Glu698= Likely benign ★★ same residue
- AXIN2 p.Glu698Gln Uncertain significance ★ ⚠ same residue
- AXIN2 c.1060-1G>C Likely pathogenic ★★ same condition
- AXIN2 c.1200+1G>A Likely pathogenic ★★ same condition
- AXIN2 c.1201-1G>C Likely pathogenic ★★ same condition
- AXIN2 c.1713-1G>A Likely pathogenic ★★ same condition
- AXIN2 c.815+1G>A Pathogenic/Likely pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/axin2-p-glu698ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown