MPDZ p.Ser797fs
c.2389del · VCV4770436
Pathogenic
Single submitter
Classification
Pathogenic
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; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MPDZ
- Protein
- p.Ser797fs
- Coding
- c.2389del
- MANE Select
- NM_001378778
- Type
- Deletion
- Location
- chr9:13186362 (GRCh38)
- Structure
- AlphaFold pLDDT 72.11 · 3 PDB
Similar variants
- MPDZ p.Ser797Pro Uncertain significance ★★ ⚠ same residue
- MPDZ p.Gln1490fs Pathogenic/Likely pathogenic ★★ same type
- MPDZ p.Gly1682fs Pathogenic/Likely pathogenic ★★ same type
- MPDZ p.Phe138fs Pathogenic ★★ same type
- MPDZ p.Ser1966fs Pathogenic/Likely pathogenic ★★ same type
- MPDZ p.Gly1492del Uncertain significance ★★ same type
- MPDZ c.5601+2_5601+3del Likely pathogenic ★ same type
- MPDZ p.Asp647fs Pathogenic ★ 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/mpdz-p-ser797fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown