PPARG p.Ala116fs
c.346dup · VCV3340491
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
PPARG-related familial partial lipodystrophy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 4 of 8 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.6 | GERP -3.4, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PPARG
- Protein
- p.Ala116fs
- Coding
- c.346dup
- MANE Select
- NM_138711
- Type
- Duplication
- Location
- chr3:12381446 (GRCh38)
- Gene constraint
- LOEUF 0.628 · pLI 0.21 (gnomAD)
- Structure
- AlphaFold pLDDT 76.11 · 321 PDB
Disease context
PPARG-related familial partial lipodystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: type 2 diabetes mellitus
For PPARG-related familial partial lipodystrophy (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adult
Similar variants
- PPARG p.Ala116= Conflicting classifications of pathogenicity ★ same residue
- 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.Pro424fs 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
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-ala116fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown