Is PPARG p.Gln91= (c.273G>A) pathogenic?

PPARG p.Gln91= (c.273G>A) is classified Likely benign in PPARG (ClinVar, No assertion criteria, 1 submitter; last evaluated 2022-03-16). Very rare (popmax 0.00167%, amr); Associated with PPARG-related disorder.

What condition is associated with PPARG p.Gln91= (c.273G>A)?

PPARG p.Gln91= (c.273G>A) is associated with PPARG-related disorder (ClinVar).

How common is PPARG p.Gln91= (c.273G>A) in the general population?

PPARG p.Gln91= (c.273G>A) is very rare (popmax 0.00167%, amr) (gnomAD).

PPARG p.Gln91=

c.273G>A · rs2049650320 · VCV3057367

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00167%, amr)

Conditions

PPARG-related disorder

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 2.9	GERP -0.97, phastCons 1
Overall
CADD	6.109	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00167% Admixed American · 1/59,924 alleles

Overall 6.84e-05% 1/1,461,194 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: PPARG
Protein: p.Gln91=
Coding: c.273G>A
MANE Select: NM_138711
dbSNP: rs2049650320
Type: single nucleotide variant
Location: chr3:12381374 (GRCh38)
Gene constraint: LOEUF 0.628 · pLI 0.21 (gnomAD)
Structure: AlphaFold pLDDT 76.11 · 321 PDB

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

Disease context

PPARG-related disorder

Similar variants

PPARG p.Gln91Glu Uncertain significance ★ ⚠ same residue
PPARG p.Pro83Gln Uncertain significance ★★ ⚠ same condition
PPARG p.Tyr143Cys Uncertain significance ★★ ⚠ same condition
PPARG p.Val111Ile Uncertain significance ★★ same condition
PPARG c.730-2A>G Likely pathogenic ★ same condition
PPARG p.Gln435Ter Likely pathogenic ★ same condition
PPARG p.Arg134Pro Uncertain significance ★ ⚠ same condition
PPARG p.Arg286His Uncertain significance ★ same condition

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/pparg-p-gln91 (accessed [today's date]).

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