CBL p.Gln367del
c.1099_1101del · rs1555230070 · VCV523667
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
CBL-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.1, phastCons 1 |
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
- CBL
- Protein
- p.Gln367del
- Coding
- c.1099_1101del
- MANE Select
- NM_005188
- dbSNP
- rs1555230070
- Type
- Deletion
- Location
- chr11:119278167 (GRCh38)
- Gene constraint
- LOEUF 0.622 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.27 · 34 PDB
- Residue 367
- the 'required for ubiquitination of spred2' region; an α-helix; a UniProt-annotated variant site (in nsll); the 'linker' region
Similar variants
- CBL p.Gln367Pro Pathogenic/Likely pathogenic ★★ same residue
- CBL c.1096-4_1096-1del Pathogenic/Likely pathogenic ★★ same condition
- CBL p.Gln367Arg Likely pathogenic ★★ same residue
- CBL c.2435-1_2435del Uncertain significance ★★ same condition
- CBL p.Ile664fs Uncertain significance ★★ same condition
- CBL p.Pro569del Uncertain significance ★★ same condition
- CBL p.Thr364del Likely pathogenic ★ same condition
- CBL c.1227+2_1227+6del 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/cbl-p-gln367del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown