AOC1 p.Arg749=
c.2247A>G · rs572130558 · VCV2658161
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.279%, sas)
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 0.11 | GERP -1 |
| Overall | ||
| CADD | 4.013 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.279%
South Asian · 243/87,148 alleles
Filtering AF
0.25%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.239%
Overall
0.0165%
260/1,575,766 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.279% | 359 |
| Middle Eastern | 0.051% | 1,962 |
| Remaining individualsnot grpmax-eligible | 0.0214% | 4,668 |
| Admixed American | 0.00173% | 57,830 |
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
- AOC1
- Protein
- p.Arg749=
- Coding
- c.2247A>G
- MANE Select
- NM_001091
- dbSNP
- rs572130558
- Type
- single nucleotide variant
- Location
- chr7:150861200 (GRCh38)
- Gene constraint
- LOEUF 1.253 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.43 · 5 PDB
Similar variants
- AOC1 p.Asn659His Benign ★★ same type
- AOC1 p.Ala347Val Uncertain significance ★ ⚠ same type
- AOC1 p.Ala357Val Uncertain significance ★ ⚠ same type
- AOC1 p.Ala487Thr Uncertain significance ★ ⚠ same type
- AOC1 p.Ala565Val Uncertain significance ★ ⚠ same type
- AOC1 p.Ala614Thr Uncertain significance ★ ⚠ same type
- AOC1 p.Arg180Gly Uncertain significance ★ ⚠ same type
- AOC1 p.Arg190Leu 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/aoc1-p-arg749 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown