Is BBS9 p.Arg449fs (c.1347_1348del) pathogenic?

BBS9 p.Arg449fs (c.13471348del) is classified Pathogenic in BBS9 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-04-11). Associated with Bardet-Biedl syndrome.

What condition is associated with BBS9 p.Arg449fs (c.1347_1348del)?

BBS9 p.Arg449fs (c.1347_1348del) 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.

BBS9 p.Arg449fs

c.1347_1348del · VCV3649585

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 13 of 23
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.53	GERP -2.1, phastCons 1

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

Variant & gene context

Gene: BBS9
Protein: p.Arg449fs
Coding: c.1347_1348del
MANE Select: NM_198428
Type: Microsatellite
Location: chr7:33349083 (GRCh38)
Gene constraint: LOEUF 0.959 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 85.41 · 2 PDB

Full BBS9 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

BBS9 p.Ala670fs Pathogenic ★★ same condition
BBS9 p.Gln835fs Pathogenic/Likely pathogenic ★★ same condition
BBS9 p.Glu853fs Pathogenic ★ same condition
BBS9 c.2633-16CT[2] Likely benign ★ same condition
BBS9 c.264-11_264-10del Likely benign ★ same condition
BBS9 c.328+15_328+16insTTTTTCTT Likely benign ★ same condition
BBS9 c.443-6_443-4del Likely benign ★ same condition
BBS9 c.1277_1280delAAGC Pathogenic/Likely pathogenic ★★ 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/bbs9-p-arg449fs (accessed [today's date]).

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