FLT3 p.Asp835del
c.2503_2505del · rs121913486 · VCV16277
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
acute myeloid leukemia
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 7.8 | GERP 2.3, 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
- FLT3
- Protein
- p.Asp835del
- Coding
- c.2503_2505del
- MANE Select
- NM_004119
- dbSNP
- rs121913486
- Type
- Deletion
- Location
- chr13:28018503 (GRCh38)
- Gene constraint
- LOEUF 0.468 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.19 · 11 PDB
- Residue 835
- a UniProt-annotated variant site (in acute lymphoblastic leukemia patients and acute myelogenous leukemia patients; somatic mutation; constitutively activated); a UniProt-annotated variant site (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated); the protein kinase domain
Similar variants
- FLT3 p.Asp835Asn Pathogenic ⚠ same residue
- FLT3 p.Asp835Glu Pathogenic ⚠ same residue
- FLT3 p.Asp835His Pathogenic ⚠ same residue
- FLT3 p.Asp835Tyr Pathogenic ⚠ same residue
- FLT3 p.Asp835Val Pathogenic ⚠ same residue
- FLT3 p.Arg845Gly Likely pathogenic ★ same condition
- FLT3 p.Tyr572Cys Likely pathogenic ★ ⚠ same condition
- FLT3 p.Ser840_Asn841insGlySer 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/flt3-p-asp835del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown