Is TRIM32 p.Pro329= (c.987G>A) pathogenic?

TRIM32 p.Pro329= (c.987G>A) is classified Likely benign in TRIM32 (ClinVar, Single submitter, 2 submitters; last evaluated 2026-01-29). Ultra-rare (popmax 0.0133%, amr); Associated with Bardet-Biedl syndrome.

What condition is associated with TRIM32 p.Pro329= (c.987G>A)?

TRIM32 p.Pro329= (c.987G>A) is associated with Bardet-Biedl syndrome (ClinVar).

How common is TRIM32 p.Pro329= (c.987G>A) in the general population?

TRIM32 p.Pro329= (c.987G>A) is ultra-rare (popmax 0.0133%, amr) (gnomAD).

How is Bardet-Biedl syndrome inherited?

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

TRIM32 p.Pro329=

c.987G>A · rs760513760 · VCV1082793

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0133%, amr)

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 -13
Overall
CADD	0.416	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0133% Admixed American · 8/60,008 alleles

Filtering AF 0.00661% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00482%

Overall 0.00471% 76/1,614,040 alleles · ultra-rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.0133%	7,501
African / African-American	0.012%	8,323
South Asian	0.011%	9,109
Remaining individualsnot grpmax-eligible	0.008%	12,498
European (non-Finnish)	0.00364%	27,443
East Asian	0.00223%	44,886

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.Pro329=
Coding: c.987G>A
MANE Select: NM_001365068 · reported on NM_012210
dbSNP: rs760513760
Type: single nucleotide variant
Location: chr9:116698729 (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

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-pro329 (accessed [today's date]).

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