ANK3 p.Gln2812fs
c.8433dup · VCV3781159
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 37 of 44 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.8 | GERP 2.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ANK3
- Protein
- p.Gln2812fs
- Coding
- c.8433dup
- MANE Select
- NM_020987
- Type
- Duplication
- Location
- chr10:60072447 (GRCh38)
- Gene constraint
- LOEUF 0.16 · pLI 1.00 (gnomAD)
- Residue 2812
- the 'disordered' region
Similar variants
- ANK3 p.Ala3966_Thr3971dup Uncertain significance ★★ same type
- ANK3 c.1690-15_1690-13dup Benign ★★ same type
- ANK3 c.1690-15_1690-14dup Benign/Likely benign ★★ same type
- ANK3 c.1690-15dup Benign ★★ same type
- ANK3 c.3174-5dup Likely benign ★★ same type
- ANK3 p.Glu1949Ter Pathogenic ★ same type
- ANK3 p.Glu2357fs Pathogenic ★ same type
- ANK3 p.Ile3117fs Pathogenic ★ same type
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/ank3-p-gln2812fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown