ANO7 p.Tyr642=
c.1926T>C · rs139811104 · VCV788966
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.42%, 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 -13 | GERP -3.1 |
| Overall | ||
| CADD | 0.255 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.42%
African / African-American · 1,817/74,988 alleles
Filtering AF
2.33%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.29%
Overall
0.131%
2,116/1,612,694 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.42% | 41 |
| Remaining individualsnot grpmax-eligible | 0.21% | 477 |
| Admixed American | 0.167% | 598 |
| Middle Eastern | 0.132% | 756 |
| South Asian | 0.00769% | 13,007 |
| East Asian | 0.00446% | 22,429 |
| European (non-Finnish) | 0.00432% | 23,130 |
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.Tyr642=
- Coding
- c.1926T>C
- MANE Select
- NM_001370694
- dbSNP
- rs139811104
- Type
- single nucleotide variant
- Location
- chr2:241216192 (GRCh38)
- Gene constraint
- LOEUF 1.159 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.56
Similar variants
- ANO7 p.Tyr642His Uncertain significance ★ ⚠ same residue
- 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
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-tyr642 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown