Is TRIM32 p.Arg155Pro (c.464G>C) pathogenic?

TRIM32 p.Arg155Pro (c.464G>C) is classified Uncertain significance in TRIM32 (ClinVar, Multiple submitters, 4 submitters; last evaluated 2024-04-18). AlphaMissense: ambiguous (0.516); Very rare (popmax 0.004%, afr); Associated with Bardet-Biedl syndrome 11.

What condition is associated with TRIM32 p.Arg155Pro (c.464G>C)?

TRIM32 p.Arg155Pro (c.464G>C) is associated with Bardet-Biedl syndrome 11, autosomal recessive limb-girdle muscular dystrophy type 2H, Bardet-Biedl syndrome (ClinVar).

How common is TRIM32 p.Arg155Pro (c.464G>C) in the general population?

TRIM32 p.Arg155Pro (c.464G>C) is very rare (popmax 0.004%, afr) (gnomAD).

How is Bardet-Biedl syndrome inherited?

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

What do computational predictors say about TRIM32 p.Arg155Pro (c.464G>C)?

AlphaMissense predicts ambiguous (score 0.516) — an in-silico prediction, not a clinical call.

TRIM32 p.Arg155Pro

c.464G>C · rs777914761 · VCV1043028

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

AlphaMissense

ambiguous

0.516 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.004%, afr)

Missense predictors

1/2 damaging

REVEL, SaProt · AlphaMissense no call

Conditions

Bardet-Biedl syndrome 11

Computational evidence

Protein change
AlphaMissense	0.516	ambiguous
REVEL	0.23	benign-leaning
SaProt	LLR -10.75	damaging
⇒ SaProt calls this damaging; REVEL does not; AlphaMissense makes no call.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 4.4	phastCons 1
Regional constraint	o/e 0.88	unconstrained · MANE · 1,958 bp · p 0.00073 · regional, not allelic
Overall
CADD	17.85	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.004% African / African-American · 3/74,918 alleles

Filtering AF 0.00106% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000495%

Overall 0.000248% 4/1,614,036 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.004%	24,973
European (non-Finnish)	8.47e-05%	1,180,058

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.Arg155Pro
Coding: c.464G>C
MANE Select: NM_001365068 · reported on NM_012210
dbSNP: rs777914761
Type: single nucleotide variant
Location: chr9:116698206 (GRCh38)

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

Disease context

Bardet-Biedl syndrome 11 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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

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-arg155pro (accessed [today's date]).

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