PPARG p.Gln408=
c.1224A>G · rs28763894 · VCV902829
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.151%, eas)
Conditions
2
obesity 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 -0.037 | GERP -4.6, phastCons 0.16 |
| Overall | ||
| CADD | 2.6 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.151%
East Asian · 68/44,892 alleles
Filtering AF
0.123%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.112%
Overall
0.00421%
68/1,614,204 alleles · rare
exomes 65/1,461,890 · genomes 3/152,314 · joint denominator
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.Gln408=
- Coding
- c.1224A>G
- MANE Select
- NM_138711
- dbSNP
- rs28763894
- Type
- single nucleotide variant
- Location
- chr3:12433941 (GRCh38)
- Gene constraint
- LOEUF 0.628 · pLI 0.21 (gnomAD)
- Structure
- AlphaFold pLDDT 76.11 · 321 PDB
- Residue 408
- the nr lbd domain
Similar variants
- PPARG p.Arg164Gln Likely pathogenic ★★ same condition
- PPARG p.Arg395Cys Pathogenic/Likely pathogenic ★★ same condition
- PPARG p.Arg395His Pathogenic/Likely pathogenic ★★ same condition
- PPARG p.Pro465Leu Pathogenic/Likely pathogenic ★★ same condition
- PPARG p.Tyr121Cys Pathogenic/Likely pathogenic ★★ same condition
- PPARG p.Asp144Gly Uncertain significance ★★ ⚠ same condition
- PPARG p.Met105Ile Uncertain significance ★★ ⚠ same condition
- PPARG p.Pro83Gln 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-gln408 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown