CBL p.Asp772=
c.2316T>C · rs774428573 · VCV3224650
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000169%, nfe)
Conditions
1
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -4.3 | GERP -2.1 |
| Overall | ||
| CADD | 5.168 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000169%
European (non-Finnish) · 2/1,180,006 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000137%
2/1,461,858 alleles · very rare
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
- CBL
- Protein
- p.Asp772=
- Coding
- c.2316T>C
- MANE Select
- NM_005188
- dbSNP
- rs774428573
- Type
- single nucleotide variant
- Location
- chr11:119298422 (GRCh38)
- Gene constraint
- LOEUF 0.622 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.27 · 34 PDB
- Residue 772
- the 'required for ubiquitination of spred2' region; the 'interaction with cd2ap' region; the 'disordered' region
Similar variants
- CBL p.Asp772Val Uncertain significance ★★ ⚠ same residue
- CBL p.Asp772Glu Benign/Likely benign ★★ same residue
- CBL p.Asp772Asn Uncertain significance ★ ⚠ same residue
- CBL p.Ala187Ser Uncertain significance ★★ ⚠ same condition
- CBL p.Ala187Val Uncertain significance ★★ ⚠ same condition
- CBL p.Ala208Thr Uncertain significance ★★ ⚠ same condition
- CBL p.Ala385Gly Uncertain significance ★★ ⚠ same condition
- CBL p.Ala450Val 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-asp772 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown