Is TRIM32 p.Asp425= (c.1275T>C) pathogenic?

TRIM32 p.Asp425= (c.1275T>C) is classified Benign/Likely benign in TRIM32 (ClinVar, Multiple submitters, 5 submitters; last evaluated 2026-01-26). Rare (popmax 0.167%, eas); Associated with Bardet-Biedl syndrome.

What condition is associated with TRIM32 p.Asp425= (c.1275T>C)?

TRIM32 p.Asp425= (c.1275T>C) is associated with Bardet-Biedl syndrome, autosomal recessive limb-girdle muscular dystrophy type 2H, Bardet-Biedl syndrome 11 (ClinVar).

How common is TRIM32 p.Asp425= (c.1275T>C) in the general population?

TRIM32 p.Asp425= (c.1275T>C) is rare (popmax 0.167%, eas) (gnomAD).

How is Bardet-Biedl syndrome inherited?

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

TRIM32 p.Asp425=

c.1275T>C · rs150813870 · VCV697113

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

gnomAD v4.1

Rare

rare (popmax 0.167%, eas)

Conditions

Bardet-Biedl syndrome

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 0.47	phastCons 0.18
Overall
CADD	4.136	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.167% East Asian · 75/44,862 alleles

Filtering AF 0.137% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.125%

Overall 0.0107% 172/1,614,158 alleles · rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.167%	598
South Asian	0.0845%	1,183
Remaining individualsnot grpmax-eligible	0.0224%	4,465
Admixed American	0.00333%	30,015
African / African-American	0.00133%	75,052
European (non-Finnish)	0.000254%	393,340

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.Asp425=
Coding: c.1275T>C
MANE Select: NM_001365068 · reported on NM_012210
dbSNP: rs150813870
Type: single nucleotide variant
Location: chr9:116699017 (GRCh38)

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

Disease context

Bardet-Biedl syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: autosomal recessive limb-girdle muscular dystrophy type 2H Bardet-Biedl syndrome 11

For Bardet-Biedl syndrome (Orphanet):

Inheritance: Autosomal recessive, Oligogenic
Onset: Antenatal, Childhood, Infancy, Neonatal
Prevalence: 1-9 / 100 000 (Specific population)

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-asp425 (accessed [today's date]).

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