Is BBS7 p.Phe58fs (c.174del) pathogenic?

BBS7 p.Phe58fs (c.174del) is classified Pathogenic in BBS7 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-11-10). Absent from gnomAD; Associated with Inborn genetic diseases.

What condition is associated with BBS7 p.Phe58fs (c.174del)?

BBS7 p.Phe58fs (c.174del) is associated with Inborn genetic diseases (ClinVar).

How common is BBS7 p.Phe58fs (c.174del) in the general population?

BBS7 p.Phe58fs (c.174del) is absent from gnomAD (gnomAD).

BBS7 p.Phe58fs

c.174del · rs1726987563 · VCV985245

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

Inborn genetic diseases

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 4 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.8	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.Phe58fs
Coding: c.174del
MANE Select: NM_176824
dbSNP: rs1726987563
Type: Deletion
Location: chr4:121861671 (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

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BBS7 p.Asn130fs Pathogenic ★★ same condition
BBS7 p.Phe58= Likely benign ★ same residue
BBS7 p.Gln339Ter Pathogenic ★★ same condition
BBS7 p.Arg160Cys Uncertain significance ★★ ⚠ same condition
BBS7 p.Arg170Gly Uncertain significance ★★ ⚠ same condition
BBS7 p.Arg228Cys Uncertain significance ★★ ⚠ same condition
BBS7 p.Arg459Cys Uncertain significance ★★ ⚠ same condition
BBS7 p.Arg459His 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/bbs7-p-phe58fs (accessed [today's date]).

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