ANO9 p.Phe705=
c.2115C>T · VCV3401267
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 4.36%, amr)
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 -0.69 | GERP -3.4 |
| Overall | ||
| CADD | 11.68 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.36%
Admixed American · 2,615/60,018 alleles
Filtering AF
4.22%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.16%
Overall
2%
32,317/1,612,992 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 4.36% | 23 |
| European (non-Finnish) | 2.28% | 44 |
| Remaining individualsnot grpmax-eligible | 1.93% | 52 |
| Finnishnot grpmax-eligible | 1.27% | 79 |
| Amishnot grpmax-eligible | 0.987% | 101 |
| Ashkenazi Jewishnot grpmax-eligible | 0.659% | 152 |
| African / African-American | 0.436% | 229 |
| South Asian | 0.31% | 323 |
| Middle Eastern | 0.148% | 674 |
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
- ANO9
- Protein
- p.Phe705=
- Coding
- c.2115C>T
- MANE Select
- NM_001012302
- Type
- single nucleotide variant
- Location
- chr11:418735 (GRCh38)
- Gene constraint
- LOEUF 1.022 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.99
Similar variants
- ANO9 p.Ile122= Benign ★★ same type
- ANO9 p.Ala101Val Uncertain significance ★ ⚠ same type
- ANO9 p.Ala104Thr Uncertain significance ★ ⚠ same type
- ANO9 p.Ala108Thr Uncertain significance ★ ⚠ same type
- ANO9 p.Ala221Ser Uncertain significance ★ ⚠ same type
- ANO9 p.Ala275Pro Uncertain significance ★ ⚠ same type
- ANO9 p.Ala30Ser Uncertain significance ★ ⚠ same type
- ANO9 p.Ala30Thr Uncertain significance ★ ⚠ 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/ano9-p-phe705 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown