Is TRIM32 p.Leu289fs (c.865_866insG) pathogenic?

TRIM32 p.Leu289fs (c.865866insG) is classified Likely pathogenic in TRIM32 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-06-25). No gnomAD frequency available for this variant; Associated with Bardet-Biedl syndrome 11.

What condition is associated with TRIM32 p.Leu289fs (c.865_866insG)?

TRIM32 p.Leu289fs (c.865_866insG) is associated with Bardet-Biedl syndrome 11 (ClinVar).

How common is TRIM32 p.Leu289fs (c.865_866insG) in the general population?

TRIM32 p.Leu289fs (c.865_866insG) is no gnomAD frequency available for this variant (gnomAD).

How is Bardet-Biedl syndrome inherited?

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

TRIM32 p.Leu289fs

c.865_866insG · rs2491063018 · VCV2431597

Likely pathogenic Multiple submitters

Classification

Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Bardet-Biedl syndrome 11

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 7.7	phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: TRIM32
Protein: p.Leu289fs
Coding: c.865_866insG
MANE Select: NM_001365068 · reported on NM_012210
dbSNP: rs2491063018
Type: Insertion
Location: chr9:116698607 (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

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-leu289fs (accessed [today's date]).

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