Is BBS7 p.Arg30fs (c.90_91del) pathogenic?

BBS7 p.Arg30fs (c.9091del) is classified Pathogenic in BBS7 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-01-07). Very rare (popmax 0.00267%, afr); Associated with Bardet-Biedl syndrome.

What condition is associated with BBS7 p.Arg30fs (c.90_91del)?

BBS7 p.Arg30fs (c.90_91del) is associated with Bardet-Biedl syndrome (ClinVar).

How common is BBS7 p.Arg30fs (c.90_91del) in the general population?

BBS7 p.Arg30fs (c.90_91del) is very rare (popmax 0.00267%, afr) (gnomAD).

How is Bardet-Biedl syndrome inherited?

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

BBS7 p.Arg30fs

c.90_91del · rs1291044978 · VCV2826942

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.00267%, afr)

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 2 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.7	GERP 0.59, phastCons 0.71
Overall
CADD	25.6	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00267% African / African-American · 2/74,890 alleles

Filtering AF 0.000443% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000166%

Overall 0.000124% 2/1,613,010 alleles · very rare exomes 1/1,460,818 · genomes 1/152,192 · joint denominator

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: BBS7
Protein: p.Arg30fs
Coding: c.90_91del
MANE Select: NM_176824
dbSNP: rs1291044978
Type: Microsatellite
Location: chr4:121867992 (GRCh38)
Gene constraint: LOEUF 0.701 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 92.99

Full BBS7 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

BBS7 p.Arg238fs Pathogenic ★★ same condition
BBS7 p.Asn362fs Pathogenic/Likely pathogenic ★★ same condition
BBS7 p.Glu205fs Pathogenic/Likely pathogenic ★★ same condition
BBS7 p.His29fs Pathogenic/Likely pathogenic ★★ same condition
BBS7 p.Tyr354_Lys355delinsTer Pathogenic ★★ same condition
BBS7 c.1786+10_1786+13del Likely benign ★ same condition
BBS7 c.1786+20_1786+22del Likely benign ★ same condition
BBS7 c.1305+2T>A 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/bbs7-p-arg30fs (accessed [today's date]).

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