Is TRIM32 p.Cys461= (c.1383C>T) pathogenic?

TRIM32 p.Cys461= (c.1383C>T) is classified Conflicting classifications of pathogenicity in TRIM32 (ClinVar, Conflicting submitters, 5 submitters; last evaluated 2025-07-11). Very rare (popmax 0.00668%, eas); Associated with autosomal recessive limb-girdle muscular dystrophy type 2H.

How common is TRIM32 p.Cys461= (c.1383C>T) in the general population?

TRIM32 p.Cys461= (c.1383C>T) is very rare (popmax 0.00668%, eas) (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.

TRIM32 p.Cys461=

Q: What condition is associated with TRIM32 p.Cys461= (c.1383C>T)?

TRIM32 p.Cys461= (c.1383C>T) is associated with autosomal recessive limb-girdle muscular dystrophy type 2H, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome (ClinVar).

c.1383C>T · rs200244154 · VCV913170

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 5 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00668%, eas)

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.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -12
Overall
CADD	2.044	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00668% East Asian · 3/44,882 alleles

Filtering AF 0.00199% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00175%

Overall 0.00266% 43/1,614,162 alleles · very rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.00668%	14,961
Admixed American	0.005%	20,009
Remaining individualsnot grpmax-eligible	0.0032%	31,254
European (non-Finnish)	0.0028%	35,757
African / African-American	0.00266%	37,524

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: TRIM32
Protein: p.Cys461=
Coding: c.1383C>T
MANE Select: NM_001365068 · reported on NM_012210
dbSNP: rs200244154
Type: single nucleotide variant
Location: chr9:116699125 (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 Bardet-Biedl syndrome

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-cys461 (accessed [today's date]).

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