ANK1 p.Ala312fs
c.934del · VCV3644958
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 10 of 43 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ANK1
- Protein
- p.Ala312fs
- Coding
- c.934del
- MANE Select
- NM_000037
- Type
- Deletion
- Location
- chr8:41719834 (GRCh38)
- Gene constraint
- LOEUF 0.299 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.64 · 21 PDB
- Residue 312
- an α-helix; the '89 kda domain' region
Similar variants
- ANK1 p.Ala312Glu Uncertain significance ★★ ⚠ same residue
- ANK1 p.Ala312Val Uncertain significance ★ ⚠ same residue
- ANK1 p.Ala312= Likely benign ★ same residue
- ANK1 p.Ala1605fs Likely pathogenic ★★ same type
- ANK1 p.Ala461fs Likely pathogenic ★★ same type
- ANK1 p.Ala983fs Pathogenic ★★ same type
- ANK1 p.Arg1137fs Pathogenic/Likely pathogenic ★★ same type
- ANK1 p.Arg1377fs Pathogenic/Likely 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/ank1-p-ala312fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown