ASIC2 p.Ala293=
c.879A>C · rs149305028 · VCV735541
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.456%, 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 -1.4 | GERP -3.5 |
| Overall | ||
| CADD | 5.689 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.456%
African / African-American · 342/75,068 alleles
Filtering AF
0.416%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.4%
Overall
0.0246%
397/1,614,150 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.456% | 219 |
| Remaining individualsnot grpmax-eligible | 0.0336% | 2,977 |
| Admixed American | 0.02% | 5,002 |
| European (non-Finnish) | 0.00186% | 53,635 |
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
- ASIC2
- Protein
- p.Ala293=
- Coding
- c.879A>C
- MANE Select
- NM_183377
- dbSNP
- rs149305028
- Type
- single nucleotide variant
- Location
- chr17:33088971 (GRCh38)
- Gene constraint
- LOEUF 0.591 · pLI 0.20 (gnomAD)
- Structure
- AlphaFold pLDDT 86.90 · 1 PDB
- Residue 293
- a disulfide bond
Similar variants
- ASIC2 c.988-4G>A Benign ★★ same type
- ASIC2 p.Ala129Thr Uncertain significance ★ ⚠ same type
- ASIC2 p.Ala136Val Uncertain significance ★ ⚠ same type
- ASIC2 p.Ala28Glu Uncertain significance ★ same type
- ASIC2 p.Ala382Val Uncertain significance ★ ⚠ same type
- ASIC2 p.Ala402Val Uncertain significance ★ ⚠ same type
- ASIC2 p.Ala47Thr Uncertain significance ★ same type
- ASIC2 p.Ala79Ser 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/asic2-p-ala293 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown