ANK1 p.His482=
c.1446C>T · rs753512487 · VCV3059234
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00133%, afr)
Conditions
1
ANK1-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.5 | GERP -1.1, phastCons 1 |
| Overall | ||
| CADD | 9.804 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/74,946 alleles
Filtering AF
0.000183%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00012%
Overall
0.000434%
7/1,614,132 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00133% | 74,946 |
| European (non-Finnish) | 0.000508% | 196,675 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ANK1
- Protein
- p.His482=
- Coding
- c.1446C>T
- MANE Select
- NM_000037
- dbSNP
- rs753512487
- Type
- single nucleotide variant
- Location
- chr8:41715808 (GRCh38)
- Gene constraint
- LOEUF 0.299 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.64 · 21 PDB
- Residue 482
- the '89 kda domain' region
Disease context
ANK1-related disorder
Similar variants
- ANK1 c.1801-17G>A Pathogenic/Likely pathogenic ★★ same condition
- ANK1 p.Arg1053Ter Pathogenic ★★ same condition
- ANK1 p.Arg1682Ter Pathogenic ★★ same condition
- ANK1 p.Arg281Ter Pathogenic/Likely pathogenic ★★ same condition
- ANK1 p.Arg286Ter Pathogenic ★★ same condition
- ANK1 p.Ser1646Ter Pathogenic/Likely pathogenic ★★ same condition
- ANK1 p.Trp1600Ter Pathogenic/Likely pathogenic ★★ same condition
- ANK1 p.Tyr1750Ter 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/ank1-p-his482 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown