ADGRB2 p.Ala121=
c.363G>A · rs150721064 · VCV2710469
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.484%, 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 -5.2 | GERP -3.7 |
| Overall | ||
| CADD | 0.717 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.484%
African / African-American · 363/75,042 alleles
Filtering AF
0.443%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.427%
Overall
0.0258%
415/1,611,370 alleles · rare
exomes 192/1,459,004 · genomes 223/152,366 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.484% | 207 |
| Admixed American | 0.0267% | 3,740 |
| Remaining individualsnot grpmax-eligible | 0.0241% | 4,157 |
| Middle Eastern | 0.0166% | 6,030 |
| South Asian | 0.00991% | 10,096 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00677% | 14,767 |
| East Asian | 0.0067% | 14,931 |
| European (non-Finnish) | 0.000509% | 196,437 |
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
- ADGRB2
- Protein
- p.Ala121=
- Coding
- c.363G>A
- MANE Select
- NM_001364857
- dbSNP
- rs150721064
- Type
- single nucleotide variant
- Location
- chr1:31756474 (GRCh38)
- Gene constraint
- LOEUF 0.383 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 62.10 · 1 PDB
Similar variants
- ADGRB2 p.Ala117Val Uncertain significance ★★ ⚠ same type
- ADGRB2 p.Ala1193Thr Uncertain significance ★★ ⚠ same type
- ADGRB2 p.Ala1193Val Uncertain significance ★★ ⚠ same type
- ADGRB2 p.Ala1411Val Uncertain significance ★★ ⚠ same type
- ADGRB2 p.Ala36Thr Uncertain significance ★★ ⚠ same type
- ADGRB2 p.Ala733Thr Uncertain significance ★★ ⚠ same type
- ADGRB2 p.Ala901Thr Uncertain significance ★★ ⚠ same type
- ADGRB2 p.Arg1105Cys 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/adgrb2-p-ala121 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown