PPARG p.Ser340=
c.1020C>T · rs142289300 · VCV1535468
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00668%, afr)
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 -3.8 | GERP -4.6 |
| Overall | ||
| CADD | 1.553 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00668%
African / African-American · 5/74,872 alleles
Filtering AF
0.00255%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00162%
Overall
0.00112%
18/1,613,838 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00668% | 14,974 |
| Admixed American | 0.00667% | 14,995 |
| East Asian | 0.00223% | 44,880 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,482 |
| European (non-Finnish) | 0.000593% | 168,568 |
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.Ser340=
- Coding
- c.1020C>T
- MANE Select
- NM_138711
- dbSNP
- rs142289300
- Type
- single nucleotide variant
- Location
- chr3:12416994 (GRCh38)
- Gene constraint
- LOEUF 0.628 · pLI 0.21 (gnomAD)
- Structure
- AlphaFold pLDDT 76.11 · 321 PDB
- Residue 340
- the nr lbd domain; an α-helix
Similar variants
- PPARG p.Arg164Gln Likely pathogenic ★★ same type
- PPARG p.Arg395Cys Pathogenic/Likely pathogenic ★★ same type
- PPARG p.Arg395His Pathogenic/Likely pathogenic ★★ same type
- PPARG p.Pro465Leu Pathogenic/Likely pathogenic ★★ same type
- PPARG p.Tyr121Cys Pathogenic/Likely pathogenic ★★ same type
- PPARG c.-8A>G Uncertain significance ★★ ⚠ same type
- PPARG p.Arg110His Uncertain significance ★★ ⚠ same type
- PPARG p.Arg151Gln 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/pparg-p-ser340 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown