Is BBS7 p.Arg173fs (c.517dup) pathogenic?

BBS7 p.Arg173fs (c.517dup) is classified Likely pathogenic in BBS7 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-05-22). Absent from gnomAD; Associated with Bardet-Biedl syndrome 7.

What condition is associated with BBS7 p.Arg173fs (c.517dup)?

BBS7 p.Arg173fs (c.517dup) is associated with Bardet-Biedl syndrome 7 (ClinVar).

How common is BBS7 p.Arg173fs (c.517dup) in the general population?

BBS7 p.Arg173fs (c.517dup) 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.

BBS7 p.Arg173fs

c.517dup · rs2476547907 · VCV2680074

Likely pathogenic Single submitter

Classification

Likely 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 7

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 5 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.6	GERP 1.7, 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: BBS7
Protein: p.Arg173fs
Coding: c.517dup
MANE Select: NM_176824
dbSNP: rs2476547907
Type: Duplication
Location: chr4:121859002 (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 7 — 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.Ala217fs Pathogenic/Likely pathogenic ★★ same condition
BBS7 p.Cys527fs Pathogenic ★★ same condition
BBS7 p.Leu242fs Pathogenic/Likely pathogenic ★★ same condition
BBS7 p.Met45fs Pathogenic/Likely pathogenic ★★ same condition
BBS7 p.Thr552fs Pathogenic/Likely pathogenic ★★ same condition
BBS7 c.1231-15dup Benign/Likely benign ★★ same condition
BBS7 p.Ile219fs Likely pathogenic ★ same condition
BBS7 c.165+2dup Conflicting classifications of pathogenicity ★ 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-arg173fs (accessed [today's date]).

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