ANO7 p.Leu162=
c.486G>T · rs150195342 · VCV713296
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.294%, afr)
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 2.7 | GERP -0.16, phastCons 1 |
| Overall | ||
| CADD | 1.669 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.294%
African / African-American · 221/75,058 alleles
Filtering AF
0.263%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.25%
Overall
0.016%
258/1,613,170 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.294% | 340 |
| Remaining individualsnot grpmax-eligible | 0.0336% | 2,976 |
| Admixed American | 0.0183% | 5,455 |
| European (non-Finnish) | 0.000424% | 236,001 |
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.Leu162=
- Coding
- c.486G>T
- MANE Select
- NM_001370694
- dbSNP
- rs150195342
- Type
- single nucleotide variant
- Location
- chr2:241200157 (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-leu162 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown