Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.15%, eas)
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 2.3 | GERP 0.4, phastCons 1 |
| Overall | ||
| CADD | 8.691 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.15%
East Asian · 512/44,648 alleles
Filtering AF
1.06%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.03%
Overall
0.037%
589/1,591,784 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.15% | 87 |
| Middle Eastern | 0.0508% | 1,967 |
| Remaining individualsnot grpmax-eligible | 0.0472% | 2,119 |
| South Asian | 0.0462% | 2,165 |
| Admixed American | 0.00178% | 56,274 |
| European (non-Finnish) | 0.000342% | 292,724 |
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
- ADRB2
- Protein
- p.Thr393=
- Coding
- c.1179T>C
- MANE Select
- NM_000024
- dbSNP
- rs3730182
- Type
- single nucleotide variant
- Location
- chr5:148828010 (GRCh38)
- Gene constraint
- LOEUF 0.901 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.74 · 150 PDB
- Residue 393
- the 'disordered' region
Similar variants
- ADRB2 p.Arg175= Benign ★★ same type
- ADRB2 p.Gly351= Benign ★★ same type
- ADRB2 p.Leu413= Benign ★★ same type
- ADRB2 p.Leu84= Benign ★★ same type
- ADRB2 p.Tyr366= Benign/Likely benign ★★ same type
- ADRB2 p.Ala19Glu Uncertain significance ★ ⚠ same type
- ADRB2 p.Arg328Trp Uncertain significance ★ ⚠ same type
- ADRB2 p.Gln3Lys 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/adrb2-p-thr393 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown