Is TRIM32 p.Arg166fs (c.495del) pathogenic?

TRIM32 p.Arg166fs (c.495del) is classified Likely pathogenic in TRIM32 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-01-28). Associated with autosomal recessive limb-girdle muscular dystrophy type 2H.

How is TRIM32-related limb-girdle muscular dystrophy R8 inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

TRIM32 p.Arg166fs

Q: What condition is associated with TRIM32 p.Arg166fs (c.495del)?

TRIM32 p.Arg166fs (c.495del) is associated with autosomal recessive limb-girdle muscular dystrophy type 2H, Bardet-Biedl syndrome 11 (ClinVar).

c.495del · VCV3596357

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

autosomal recessive limb-girdle muscular dystrophy type 2H

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 3	phastCons 1

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

Variant & gene context

Gene: TRIM32
Protein: p.Arg166fs
Coding: c.495del
MANE Select: NM_001365068 · reported on NM_012210
Type: Deletion
Location: chr9:116698236 (GRCh38)

Full TRIM32 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

autosomal recessive limb-girdle muscular dystrophy type 2H — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Bardet-Biedl syndrome 11

For TRIM32-related limb-girdle muscular dystrophy R8 (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Adult, Childhood

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/trim32-p-arg166fs (accessed [today's date]).

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