PPARG p.Asn310=
c.930C>T · VCV3351622
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0446%, eas)
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 -3.9 | GERP -4.6 |
| Overall | ||
| CADD | 1.925 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0446%
East Asian · 20/44,890 alleles
Filtering AF
0.0295%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0246%
Overall
0.00223%
36/1,613,926 alleles · ultra-rare
exomes 33/1,461,844 · genomes 3/152,082 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0446% | 2,244 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,600 |
| African / African-American | 0.00267% | 37,449 |
| South Asian | 0.0022% | 45,541 |
| European (non-Finnish) | 0.000932% | 107,273 |
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.Asn310=
- Coding
- c.930C>T
- MANE Select
- NM_138711
- Type
- single nucleotide variant
- Location
- chr3:12416904 (GRCh38)
- Gene constraint
- LOEUF 0.628 · pLI 0.21 (gnomAD)
- Structure
- AlphaFold pLDDT 76.11 · 321 PDB
- Residue 310
- the nr lbd domain; an α-helix
Similar variants
- PPARG p.Asn310Asp Uncertain significance ★ ⚠ same residue
- 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
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-asn310 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown