Is TRIM32 p.Glu232Gln (c.694G>C) pathogenic?

TRIM32 p.Glu232Gln (c.694G>C) is classified Uncertain significance in TRIM32 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-02-19). AlphaMissense: likely benign (0.2377); Absent from gnomAD v4.1; Associated with autosomal recessive limb-girdle muscular dystrophy type 2H.

How common is TRIM32 p.Glu232Gln (c.694G>C) in the general population?

TRIM32 p.Glu232Gln (c.694G>C) is absent from gnomAD v4.1 (gnomAD).

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

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

What do computational predictors say about TRIM32 p.Glu232Gln (c.694G>C)?

AlphaMissense predicts likely benign (score 0.2377) — an in-silico prediction, not a clinical call.

TRIM32 p.Glu232Gln

Q: What condition is associated with TRIM32 p.Glu232Gln (c.694G>C)?

TRIM32 p.Glu232Gln (c.694G>C) is associated with autosomal recessive limb-girdle muscular dystrophy type 2H, Bardet-Biedl syndrome 11 (ClinVar).

c.694G>C · VCV3596360

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.2377 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL no call

Conditions

autosomal recessive limb-girdle muscular dystrophy type 2H

Computational evidence

Protein change
AlphaMissense	0.2377	likely benign
REVEL	0.424	indeterminate
SaProt	LLR -6.31	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 12	phastCons 1
Regional constraint	o/e 0.88	unconstrained · MANE · 1,958 bp · p 0.00073 · regional, not allelic
Overall
CADD	23.2	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: TRIM32
Protein: p.Glu232Gln
Coding: c.694G>C
MANE Select: NM_001365068 · reported on NM_012210
Type: single nucleotide variant
Location: chr9:116698436 (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-glu232gln (accessed [today's date]).

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