Is FBXO7 c.1183-7del pathogenic?

FBXO7 c.1183-7del is classified Benign in FBXO7 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-11-24). No gnomAD frequency available for this variant; Associated with parkinsonian-pyramidal syndrome.

What condition is associated with FBXO7 c.1183-7del?

FBXO7 c.1183-7del is associated with parkinsonian-pyramidal syndrome (ClinVar).

How common is FBXO7 c.1183-7del in the general population?

FBXO7 c.1183-7del is no gnomAD frequency available for this variant (gnomAD).

How is Parkinsonian-pyramidal syndrome inherited?

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

FBXO7 c.1183-7del

rs2544671616 · VCV2885643

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

parkinsonian-pyramidal syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
Splice region	acceptor -7	acceptor splice region (-7, within the last 20 intronic nt) · inside the BP7-excluded zone
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.68	GERP -1.4
Non-coding constraint	Z 0.85	1 kb window · o/e 0.94 · regional · uncalibrated

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: FBXO7
Coding: c.1183-7del
MANE Select: NM_012179
dbSNP: rs2544671616
Type: Deletion
Location: chr22:32498132 (GRCh38)
Gene constraint: LOEUF 0.955 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 67.13 · 2 PDB

Full FBXO7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

parkinsonian-pyramidal syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Parkinsonian-pyramidal syndrome (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Adult

Similar variants

FBXO7 p.Pro484fs Pathogenic/Likely pathogenic ★★ same condition
FBXO7 p.Arg513fs Uncertain significance ★★ same condition
FBXO7 c.1183-2_1183-1del Likely pathogenic ★ same condition
FBXO7 p.Asn51fs Pathogenic ★ same condition
FBXO7 p.Asp348fs Pathogenic ★ same condition
FBXO7 p.Cys192fs Pathogenic ★ same condition
FBXO7 p.Gly126fs Pathogenic ★ same condition
FBXO7 p.Leu106fs 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/fbxo7-c-1183-minus-7del (accessed [today's date]).

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