Is PPARG p.Ser17fs (c.46_58del) pathogenic?

PPARG p.Ser17fs (c.4658del) is classified Likely pathogenic in PPARG (ClinVar, Single submitter, 1 submitter; last evaluated 2016-01-01). Absent from gnomAD; Associated with obesity disorder.

What condition is associated with PPARG p.Ser17fs (c.46_58del)?

PPARG p.Ser17fs (c.46_58del) is associated with obesity disorder (ClinVar).

How common is PPARG p.Ser17fs (c.46_58del) in the general population?

PPARG p.Ser17fs (c.46_58del) is absent from gnomAD (gnomAD).

PPARG p.Ser17fs

c.46_58del · rs2049559215 · VCV930372

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

obesity disorder

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 3 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 8.5	GERP 1.7, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: PPARG
Protein: p.Ser17fs
Coding: c.46_58del
MANE Select: NM_138711
dbSNP: rs2049559215
Type: Deletion
Location: chr3:12379752 (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

obesity disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

PPARG p.Asp144Gly Uncertain significance ★★ ⚠ same condition
PPARG c.-8-28078C>G Benign/Likely benign ★★ same condition
PPARG p.His447= Benign/Likely benign ★★ same condition
PPARG p.Ile454= Benign/Likely benign ★★ same condition
PPARG p.Ser427= Benign/Likely benign ★★ same condition
PPARG c.391-3C>T Conflicting classifications of pathogenicity ★ same condition
PPARG p.Ala116= Conflicting classifications of pathogenicity ★ same condition
PPARG p.Arg210Gln Conflicting classifications of pathogenicity ★ 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-ser17fs (accessed [today's date]).

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