ANO7 p.Val475=
c.1425G>A · rs141796681 · VCV778057
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.735%, nfe)
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 1.1 | GERP -1.4, phastCons 1 |
| Overall | ||
| CADD | 6.319 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.735%
European (non-Finnish) · 8,677/1,179,996 alleles
Filtering AF
0.722%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.717%
Overall
0.62%
10,014/1,614,062 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.735% | 136 |
| Admixed American | 0.58% | 172 |
| Remaining individualsnot grpmax-eligible | 0.536% | 187 |
| South Asian | 0.461% | 217 |
| Ashkenazi Jewishnot grpmax-eligible | 0.314% | 318 |
| Middle Eastern | 0.214% | 466 |
| African / African-American | 0.109% | 916 |
| Finnishnot grpmax-eligible | 0.0704% | 1,421 |
| East Asian | 0.00223% | 44,870 |
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
- ANO7
- Protein
- p.Val475=
- Coding
- c.1425G>A
- MANE Select
- NM_001370694
- dbSNP
- rs141796681
- Type
- single nucleotide variant
- Location
- chr2:241210360 (GRCh38)
- Gene constraint
- LOEUF 1.159 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.56
Similar variants
- ANO7 c.1077+10G>A Benign ★★ same type
- ANO7 c.1077+73C>A Benign ★★ same type
- ANO7 c.108+183T>G Benign ★★ same type
- ANO7 c.1359+129A>G Benign ★★ same type
- ANO7 c.1359+23G>A Benign ★★ same type
- ANO7 c.1459-5G>A Benign ★★ same type
- ANO7 c.1561+106T>C Benign ★★ same type
- ANO7 c.1561+64C>T 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/ano7-p-val475 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown