Is ADRB2 p.Ala92= (c.276C>G) pathogenic?

ADRB2 p.Ala92= (c.276C>G) is classified Likely benign in ADRB2 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-03-30). Absent from gnomAD v4.1.

How common is ADRB2 p.Ala92= (c.276C>G) in the general population?

ADRB2 p.Ala92= (c.276C>G) is absent from gnomAD v4.1 (gnomAD).

ADRB2 p.Ala92=

c.276C>G · rs1262409100 · VCV746540

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 1.7	GERP 0.7, phastCons 1
Overall
CADD	10.85	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ADRB2
Protein: p.Ala92=
Coding: c.276C>G
MANE Select: NM_000024
dbSNP: rs1262409100
Type: single nucleotide variant
Location: chr5:148827107 (GRCh38)
Gene constraint: LOEUF 0.901 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.74 · 150 PDB
Residue 92: an α-helix

Full ADRB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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-ala92 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown