MDM2 p.Val286fs
c.857del · VCV3765234
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 10 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.1 | GERP 0.94, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MDM2
- Protein
- p.Val286fs
- Coding
- c.857del
- MANE Select
- NM_002392
- Type
- Deletion
- Location
- chr12:68836688 (GRCh38)
- Gene constraint
- LOEUF 0.325 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 63.24 · 148 PDB
- Residue 286
- the 'arf-binding' region; the 'region ii' region; the 'necessary for interaction with usp2' region; the 'interaction with mtbp' region; the 'mediates interaction with rad54b' region
Similar variants
- MDM2 p.Val286= Likely benign ★ same residue
- MDM2 p.Glu429fs Uncertain significance ★ same type
- MDM2 p.Gly233del Uncertain significance ★ same type
- MDM2 c.685-3del Benign ★ same type
- MDM2 c.840+14del Benign ★ same type
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/mdm2-p-val286fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown