Is PPARG p.Lys155fs (c.464_466delinsT) pathogenic?

PPARG p.Lys155fs (c.464466delinsT) is classified Pathogenic in PPARG (ClinVar, No assertion criteria, 1 submitter; last evaluated 2002-08-01). No gnomAD frequency available for this variant; Associated with DIABETES MELLITUS, TYPE II, DIGENIC.

What condition is associated with PPARG p.Lys155fs (c.464_466delinsT)?

PPARG p.Lys155fs (c.464_466delinsT) is associated with DIABETES MELLITUS, TYPE II, DIGENIC (ClinVar).

How common is PPARG p.Lys155fs (c.464_466delinsT) in the general population?

PPARG p.Lys155fs (c.464_466delinsT) is no gnomAD frequency available for this variant (gnomAD).

PPARG p.Lys155fs

c.464_466delinsT · rs2125215016 · VCV8140

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

DIABETES MELLITUS, TYPE II, DIGENIC

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 5 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 0.63, 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.Lys155fs
Coding: c.464_466delinsT
MANE Select: NM_138711
dbSNP: rs2125215016
Type: Indel
Location: chr3:12392687 (GRCh38)
Gene constraint: LOEUF 0.628 · pLI 0.21 (gnomAD)
Structure: AlphaFold pLDDT 76.11 · 321 PDB
Residue 155: a DNA-binding region

Full PPARG gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

DIABETES MELLITUS, TYPE II, DIGENIC — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

PPARG p.Glu416Ter Pathogenic ★ same type
PPARG p.Ser353Asp 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-lys155fs (accessed [today's date]).

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