ANO1 p.Ser112=
c.336G>C · VCV4912873
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00853%, nfe)
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 -4 | GERP -2.2 |
| Overall | ||
| CADD | 0.322 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00853%
European (non-Finnish) · 99/1,161,262 alleles
Filtering AF
0.00714%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00662%
Overall
0.00659%
104/1,578,878 alleles · very rare
exomes 96/1,427,094 · genomes 8/151,784 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00853% | 11,730 |
| South Asian | 0.00347% | 28,783 |
| Remaining individualsnot grpmax-eligible | 0.00328% | 30,502 |
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.Ser112=
- Coding
- c.336G>C
- MANE Select
- NM_018043
- Type
- single nucleotide variant
- Location
- chr11:70087979 (GRCh38)
- Gene constraint
- LOEUF 0.618 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.20
- Residue 112
- 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-ser112 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown