ADGRB2 p.Val89=
c.267G>A · rs1330388021 · VCV2982967
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00458%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.47 | donor gain · deltas |
|---|---|---|
| Pangolin | Δ0.35 | gain · loss 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 5.9 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 18.83 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00458%
European (non-Finnish) · 54/1,178,764 alleles
Filtering AF
0.00359%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00321%
Overall
0.00335%
54/1,611,856 alleles · very rare
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.Val89=
- Coding
- c.267G>A
- MANE Select
- NM_001364857
- dbSNP
- rs1330388021
- Type
- single nucleotide variant
- Location
- chr1:31756570 (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-val89 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown