ADGRB2 p.Pro1427=
c.4281G>A · rs779585459 · VCV2984237
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00406%, 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 -7.9 | GERP -4.2 |
| Overall | ||
| CADD | 0.345 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00406%
African / African-American · 3/73,858 alleles
Filtering AF
0.00112%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000914%
Overall
0.00165%
26/1,579,326 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00406% | 24,619 |
| East Asian | 0.00225% | 44,534 |
| Admixed American | 0.0018% | 55,442 |
| European (non-Finnish) | 0.00172% | 58,101 |
| South Asian | 0.00117% | 85,778 |
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.Pro1427=
- Coding
- c.4281G>A
- MANE Select
- NM_001364857
- dbSNP
- rs779585459
- Type
- single nucleotide variant
- Location
- chr1:31730899 (GRCh38)
- Gene constraint
- LOEUF 0.383 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 62.10 · 1 PDB
- Residue 1427
- the 'disordered' region
Similar variants
- ADGRB2 p.Pro1427Gln Uncertain significance ★ ⚠ same residue
- ADGRB2 p.Pro1427Leu Uncertain significance ★ ⚠ same residue
- 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
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-pro1427 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown