Is BBS5 p.Val67fs (c.198del) pathogenic?

BBS5 p.Val67fs (c.198del) is classified Pathogenic in BBS5 (ClinVar, Single submitter, 1 submitter). Absent from gnomAD; Associated with Bardet-Biedl syndrome.

What condition is associated with BBS5 p.Val67fs (c.198del)?

BBS5 p.Val67fs (c.198del) is associated with Bardet-Biedl syndrome (ClinVar).

How common is BBS5 p.Val67fs (c.198del) in the general population?

BBS5 p.Val67fs (c.198del) is absent from gnomAD (gnomAD).

How is Bardet-Biedl syndrome inherited?

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

BBS5 p.Val67fs

c.198del · rs2468036567 · VCV2500153

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 12	GERP 1.6, 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: BBS5
Protein: p.Val67fs
Coding: c.198del
MANE Select: NM_152384
dbSNP: rs2468036567
Type: Deletion
Location: chr2:169487124 (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.Asn149fs Pathogenic/Likely pathogenic ★★ same condition
BBS5 p.Gly42fs Pathogenic ★★ same condition
BBS5 p.Lys236_Ile237insTer Pathogenic ★★ same condition
BBS5 p.Val315fs Pathogenic/Likely pathogenic ★★ same condition
BBS5 c.619-16_619-15del Benign/Likely benign ★★ same condition
BBS5 p.Ala219fs Pathogenic ★ same condition
BBS5 p.Met136fs Pathogenic ★ same condition
BBS5 c.681+5del Uncertain significance ★ 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-val67fs (accessed [today's date]).

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