Is CBL p.Ile26= (c.78T>C) pathogenic?

CBL p.Ile26= (c.78T>C) is classified Likely benign in CBL (ClinVar, Single submitter, 1 submitter; last evaluated 2024-10-24). No allele count reported in gnomAD v4.1 (AN 1,570,180); Associated with Cardiovascular phenotype.

What condition is associated with CBL p.Ile26= (c.78T>C)?

CBL p.Ile26= (c.78T>C) is associated with Cardiovascular phenotype (ClinVar).

How common is CBL p.Ile26= (c.78T>C) in the general population?

CBL p.Ile26= (c.78T>C) is no allele count reported in gnomAD v4.1 (AN 1,570,180) (gnomAD).

CBL p.Ile26=

c.78T>C · VCV3485599

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,570,180)

Conditions

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 0.56	GERP -2.8, phastCons 1
Overall
CADD	12.03	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,570,180). 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.Ile26=
Coding: c.78T>C
MANE Select: NM_005188
Type: single nucleotide variant
Location: chr11:119206495 (GRCh38)
Gene constraint: LOEUF 0.622 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 64.27 · 34 PDB
Residue 26: the 'sufficient for interaction with ephb1' region

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

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CBL p.Ile26Met Uncertain significance ★★ same residue
CBL p.Ile26Leu Uncertain significance ★ ⚠ same residue
CBL p.Ile26Val Uncertain significance ★ ⚠ same residue
CBL p.Ile26Thr 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

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-ile26 (accessed [today's date]).

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