ANO7 p.Pro700=
c.2100G>C · rs78605785 · VCV1227194
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 30.5%, amr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.076 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -5.6 | GERP -3.5 |
| Overall | ||
| CADD | 7.839 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
30.5%
Admixed American · 18,205/59,614 alleles
Filtering AF
30.2%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 30%
Overall
2.52%
40,541/1,609,236 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 30.5% | 3 |
| East Asian | 16.7% | 6 |
| South Asian | 6.67% | 15 |
| Remaining individualsnot grpmax-eligible | 3.33% | 30 |
| Finnishnot grpmax-eligible | 2.23% | 45 |
| Ashkenazi Jewishnot grpmax-eligible | 0.698% | 143 |
| African / African-American | 0.657% | 152 |
| Middle Eastern | 0.463% | 216 |
| European (non-Finnish) | 0.395% | 253 |
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.Pro700=
- Coding
- c.2100G>C
- MANE Select
- NM_001370694
- dbSNP
- rs78605785
- Type
- single nucleotide variant
- Location
- chr2:241217813 (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-pro700 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown