Is GNB2 p.Arg137= (c.409C>A) pathogenic?

GNB2 p.Arg137= (c.409C>A) is classified Likely benign in GNB2 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-06). Absent from gnomAD v4.1.

How common is GNB2 p.Arg137= (c.409C>A) in the general population?

GNB2 p.Arg137= (c.409C>A) is absent from gnomAD v4.1 (gnomAD).

GNB2 p.Arg137=

c.409C>A · VCV4897130

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 1.3	GERP 4, phastCons 1
Overall
CADD	13.21	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: GNB2
Protein: p.Arg137=
Coding: c.409C>A
MANE Select: NM_005273
Type: single nucleotide variant
Location: chr7:100677639 (GRCh38)
Gene constraint: LOEUF 0.372 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 96.89 · 1 PDB

Full GNB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

GNB2 p.Ala73Thr Pathogenic/Likely pathogenic ★★ same type
GNB2 p.Gly77Glu Pathogenic/Likely pathogenic ★★ same type
GNB2 p.Thr198Lys Uncertain significance ★★ ⚠ same type
GNB2 p.Thr50Ile Uncertain significance ★★ ⚠ same type
GNB2 c.268-11C>G Likely benign ★★ same type
GNB2 p.Arg129= Likely benign ★★ same type
GNB2 p.Arg48Gln Likely pathogenic ★ same type
GNB2 p.Asn119Lys Pathogenic ★ 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/gnb2-p-arg137 (accessed [today's date]).

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