Is BBS5 p.Val69fs (c.204dup) pathogenic?

BBS5 p.Val69fs (c.204dup) is classified Pathogenic in BBS5 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-12-18). Associated with Bardet-Biedl syndrome.

What condition is associated with BBS5 p.Val69fs (c.204dup)?

BBS5 p.Val69fs (c.204dup) is associated with Bardet-Biedl syndrome (ClinVar).

How is Bardet-Biedl syndrome inherited?

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

BBS5 p.Val69fs

c.204dup · VCV3727601

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Bardet-Biedl syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 3 of 12
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 1.6, phastCons 1

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

Variant & gene context

Gene: BBS5
Protein: p.Val69fs
Coding: c.204dup
MANE Select: NM_152384
Type: Duplication
Location: chr2:169487129 (GRCh38)
Gene constraint: LOEUF 0.884 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 88.87 · 1 PDB

Full BBS5 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)

Similar variants

BBS5 p.Ala19fs Pathogenic ★★ same condition
BBS5 p.Asn102Ter Pathogenic/Likely pathogenic ★★ same condition
BBS5 p.Asn184_Val185insAsn Pathogenic ★ same condition
BBS5 p.Leu4fs Pathogenic ★ same condition
BBS5 p.Val188fs Pathogenic ★ same condition
BBS5 c.142+3_142+10dup Likely benign ★ same condition
BBS5 c.258+14dup Benign ★ same condition
BBS5 c.259-10_259-6dup Likely benign ★ same condition

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/bbs5-p-val69fs (accessed [today's date]).

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