AOC2 p.Arg597=
c.1791C>T · rs33923044 · VCV781367
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.7%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.25 | donor loss · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -13 | GERP -4.2 |
| Overall | ||
| CADD | 12.0 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.7%
African / African-American · 2,027/75,032 alleles
Filtering AF
2.6%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.56%
Overall
0.187%
3,018/1,614,162 alleles · low-frequency
exomes 1,790/1,461,888 · genomes 1,228/152,274 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.7% | 37 |
| Admixed American | 0.416% | 240 |
| Middle Eastern | 0.379% | 264 |
| Remaining individualsnot grpmax-eligible | 0.286% | 349 |
| European (non-Finnish) | 0.0429% | 2,332 |
| South Asian | 0.022% | 4,554 |
| Finnishnot grpmax-eligible | 0.0109% | 9,147 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0101% | 9,869 |
| East Asian | 0.00668% | 14,960 |
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
- AOC2
- Protein
- p.Arg597=
- Coding
- c.1791C>T
- MANE Select
- NM_009590
- dbSNP
- rs33923044
- Type
- single nucleotide variant
- Location
- chr17:42849288 (GRCh38)
- Gene constraint
- LOEUF 1.292 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.10
Similar variants
- AOC2 p.Arg597Cys Uncertain significance ★ ⚠ same residue
- AOC2 p.Arg597His Uncertain significance ★ ⚠ same residue
- AOC2 p.Pro141Leu Benign ★★ same type
- AOC2 p.Ala104Thr Uncertain significance ★ ⚠ same type
- AOC2 p.Ala218Thr Uncertain significance ★ ⚠ same type
- AOC2 p.Ala415Pro Uncertain significance ★ ⚠ same type
- AOC2 p.Ala450Val Uncertain significance ★ ⚠ same type
- AOC2 p.Ala519Gly 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/aoc2-p-arg597 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown