C5AR2 p.Arg230=
c.690C>T · VCV4943039
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.375%, 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 -0.18 | GERP -1.1 |
| Overall | ||
| CADD | 2.305 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.375%
African / African-American · 281/75,024 alleles
Filtering AF
0.338%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.325%
Overall
0.0192%
310/1,611,764 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.375% | 267 |
| Remaining individualsnot grpmax-eligible | 0.0256% | 3,904 |
| Admixed American | 0.0167% | 5,998 |
| Middle Eastern | 0.0165% | 6,060 |
| South Asian | 0.0022% | 45,515 |
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
- C5AR2
- Protein
- p.Arg230=
- Coding
- c.690C>T
- MANE Select
- NM_001271749
- Type
- single nucleotide variant
- Location
- chr19:47341489 (GRCh38)
- Gene constraint
- LOEUF 1.788 · pLI 0.37 (gnomAD)
- Structure
- AlphaFold pLDDT 86.24 · 7 PDB
Similar variants
- C5AR2 p.Arg230Cys Uncertain significance ★ ⚠ same residue
- C5AR2 p.Ile171Thr Uncertain significance ★★ ⚠ same type
- C5AR2 p.His329Arg Benign ★★ same type
- C5AR2 p.Leu281= Benign ★★ same type
- C5AR2 p.Leu299Val Benign/Likely benign ★★ same type
- C5AR2 p.Ser17= Benign ★★ same type
- C5AR2 p.Ala136Thr Uncertain significance ★ ⚠ same type
- C5AR2 p.Ala170Thr 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/c5ar2-p-arg230 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown