ACKR5 p.Thr210=
c.630G>A · rs34377647 · VCV768557
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 9.6%, afr) — too common for a highly-penetrant pathogenic allele
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 -6.6 | GERP -4 |
| Overall | ||
| CADD | 0.137 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
9.6%
African / African-American · 7,202/75,008 alleles
Filtering AF
9.42%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 9.34%
Overall
0.52%
8,387/1,613,826 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 9.6% | 10 |
| Admixed American | 0.783% | 128 |
| Remaining individualsnot grpmax-eligible | 0.637% | 157 |
| Middle Eastern | 0.495% | 202 |
| South Asian | 0.0242% | 4,140 |
| European (non-Finnish) | 0.0225% | 4,452 |
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
- ACKR5
- Protein
- p.Thr210=
- Coding
- c.630G>A
- MANE Select
- NM_007264
- dbSNP
- rs34377647
- Type
- single nucleotide variant
- Location
- chr12:56995839 (GRCh38)
- Structure
- AlphaFold pLDDT 79.73
Similar variants
- GPR182 p.Ser181= Benign ★★ same type
- ACKR5 p.Ala371Gly Uncertain significance ★ ⚠ same type
- ACKR5 p.Arg254Trp Uncertain significance ★ ⚠ same type
- ACKR5 p.Arg53Cys Uncertain significance ★ ⚠ same type
- ACKR5 p.Arg53His Uncertain significance ★ ⚠ same type
- ACKR5 p.Arg80Ser Uncertain significance ★ ⚠ same type
- ACKR5 p.Arg84Trp Uncertain significance ★ ⚠ same type
- ACKR5 p.Glu188Lys 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/ackr5-p-thr210 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown