MIP p.Phe221Ter
c.658_661dup · VCV4917259
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Rare
Conditions
1
MIP-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 9.4 | GERP 0.63, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MIP
- Protein
- p.Phe221Ter
- Coding
- c.658_661dup
- MANE Select
- NM_012064
- Type
- Duplication
- Location
- chr12:56451410 (GRCh38)
- Structure
- AlphaFold pLDDT 78.91
Disease context
MIP-related disorder
Similar variants
- MIP c.606+1G>C Pathogenic/Likely pathogenic ★★ same condition
- MIP p.Leu143fs Likely pathogenic ★ same condition
- MIP p.Leu222fs Likely pathogenic ★ same condition
- MIP p.Trp202Ter Pathogenic ★ same condition
- MIP p.Tyr219Ter Pathogenic ★ same condition
- MIP p.Leu55fs Pathogenic ★ same type
- MIP c.*1237_*1238dup Uncertain significance ★ same type
- MIP c.*148dup 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/mip-p-phe221ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown