DPM1 p.Glu76fs
c.225del · VCV3911870
Likely pathogenic
Single submitter
Classification
Likely 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 | predicted | premature termination codon in exon 2 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5 | GERP 1.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DPM1
- Protein
- p.Glu76fs
- Coding
- c.225del
- MANE Select
- NM_003859
- Type
- Deletion
- Location
- chr20:50955222 (GRCh38)
- Gene constraint
- LOEUF 1.005 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 88.61
Similar variants
- DPM1 p.Glu18fs Pathogenic/Likely pathogenic ★★ same type
- DPM1 p.Gly111fs Pathogenic ★★ same type
- DPM1 c.372+8del Likely benign ★★ same type
- DPM1 c.373-33_373-28del Likely benign ★★ same type
- DPM1 p.Asn57_Tyr58insTer Pathogenic ★ same type
- DPM1 p.Ile164fs Pathogenic ★ same type
- DPM1 p.Ile61fs Pathogenic ★ same type
- DPM1 c.162-3del Uncertain significance ★ 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/dpm1-p-glu76fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown