BRAF p.Glu26fs
c.77_92del · VCV4721863
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
RASopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 18 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.5 | GERP 0.67, phastCons 1 |
| Region caveats | ||
| Repeat context | tandem | (CGGCGC)n simple repeat · ambiguous alignment · confidence, not pathogenicity |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BRAF
- Protein
- p.Glu26fs
- Coding
- c.77_92del
- MANE Select
- NM_004333
- Type
- Deletion
- Location
- chr7:140924612 (GRCh38)
- Gene constraint
- LOEUF 0.237 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 67.87 · 135 PDB
- Residue 26
- the 'disordered' region
Similar variants
- BRAF p.Glu26Asp Benign/Likely benign ★★ same residue
- BRAF p.Glu26Lys Conflicting classifications of pathogenicity ★ ⚠ same residue
- BRAF p.Ala404fs Uncertain significance ★★ same condition
- BRAF p.Pro403fs Uncertain significance ★★ same condition
- BRAF c.139-9del Likely benign ★★ same condition
- BRAF c.2128-16_2128-7del Benign/Likely benign ★★ same condition
- BRAF c.2128-27_2128-19del Likely benign ★★ same condition
- BRAF c.2128-5del Benign/Likely benign ★★ 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/braf-p-glu26fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown