ANO1 p.Arg82=
c.246G>A · VCV4912872
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00669%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.9 | GERP 1.4, phastCons 1 |
| Overall | ||
| CADD | 7.539 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00669%
East Asian · 3/44,810 alleles
Filtering AF
0.00178%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000892%
Overall
0.000869%
14/1,611,964 alleles · very rare
exomes 14/1,459,740 · genomes 0/152,224 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00669% | 14,937 |
| European (non-Finnish) | 0.000933% | 107,219 |
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
- ANO1
- Protein
- p.Arg82=
- Coding
- c.246G>A
- MANE Select
- NM_018043
- Type
- single nucleotide variant
- Location
- chr11:70087889 (GRCh38)
- Gene constraint
- LOEUF 0.618 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.20
- Residue 82
- the 'disordered' region
Similar variants
- ANO1 p.Ser8Trp Uncertain significance ★★ ⚠ same type
- ANO1 c.1504-8T>C Benign ★★ same type
- ANO1 p.Ala549= Benign ★★ same type
- ANO1 p.Arg81= Benign/Likely benign ★★ same type
- ANO1 p.Asn617= Benign ★★ same type
- ANO1 p.His426Asn Likely benign ★★ ⚠ same type
- ANO1 p.His703= Likely benign ★★ same type
- ANO1 p.Leu972= Benign/Likely benign ★★ 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/ano1-p-arg82 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown