ANO3 p.Ala770=
c.2310G>A · rs766181740 · VCV1950494
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00669%, eas)
Conditions
1
dystonic disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.46 | acceptor gain · deltas |
|---|---|---|
| Pangolin | Δ0.35 | gain · loss 0.11 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP -4.5 | GERP -3.9 |
| Overall | ||
| CADD | 15.34 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00669%
East Asian · 3/44,848 alleles
Filtering AF
0.00177%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000892%
Overall
0.000496%
8/1,613,746 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00669% | 14,949 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,470 |
| South Asian | 0.0011% | 91,080 |
| European (non-Finnish) | 0.000254% | 393,298 |
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
- ANO3
- Protein
- p.Ala770=
- Coding
- c.2310G>A
- MANE Select
- NM_031418
- dbSNP
- rs766181740
- Type
- single nucleotide variant
- Location
- chr11:26643216 (GRCh38)
- Gene constraint
- LOEUF 0.911 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.30
Similar variants
- ANO3 p.Ala657Thr Likely pathogenic ★★ same condition
- ANO3 p.Asn648Ser Pathogenic/Likely pathogenic ★★ same condition
- ANO3 p.Glu510Lys Pathogenic/Likely pathogenic ★★ same condition
- ANO3 c.1836+4A>C Uncertain significance ★★ same condition
- ANO3 c.2141+1G>A Uncertain significance ★★ same condition
- ANO3 c.2276-6T>C Uncertain significance ★★ same condition
- ANO3 c.2764-5T>G Uncertain significance ★★ same condition
- ANO3 c.432+4A>G Uncertain significance ★★ 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/ano3-p-ala770 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown