Is TRIM32 p.Ser92= (c.276C>T) pathogenic?

TRIM32 p.Ser92= (c.276C>T) is classified Conflicting classifications of pathogenicity in TRIM32 (ClinVar, Conflicting submitters, 10 submitters; last evaluated 2026-01-28). Rare (popmax 0.107%, afr); Associated with Bardet-Biedl syndrome.

What condition is associated with TRIM32 p.Ser92= (c.276C>T)?

TRIM32 p.Ser92= (c.276C>T) is associated with Bardet-Biedl syndrome, autosomal recessive limb-girdle muscular dystrophy type 2H, Bardet-Biedl syndrome 11 (ClinVar).

How common is TRIM32 p.Ser92= (c.276C>T) in the general population?

TRIM32 p.Ser92= (c.276C>T) is rare (popmax 0.107%, afr) (gnomAD).

How is Bardet-Biedl syndrome inherited?

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

TRIM32 p.Ser92=

c.276C>T · rs140589523 · VCV95497

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 10 submitters

gnomAD v4.1

Rare

rare (popmax 0.107%, afr)

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 -6.8
Overall
CADD	0.81	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.107% African / African-American · 80/75,050 alleles

Filtering AF 0.0877% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0808%

Overall 0.0367% 592/1,614,062 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.107%	938
European (non-Finnish)	0.0413%	2,423
Remaining individualsnot grpmax-eligible	0.032%	3,125
East Asian	0.00223%	44,862
South Asian	0.0022%	45,541
Admixed American	0.00167%	60,034
Finnishnot grpmax-eligible	0.00156%	63,908

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.Ser92=
Coding: c.276C>T
MANE Select: NM_001365068 · reported on NM_012210
dbSNP: rs140589523
Type: single nucleotide variant
Location: chr9:116698018 (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-ser92 (accessed [today's date]).

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