CP p.Asp932fs
c.2795_2796del · VCV4733121
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
aceruloplasminemia
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 16 of 19 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 2.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CP
- Protein
- p.Asp932fs
- Coding
- c.2795_2796del
- MANE Select
- NM_000096
- Type
- Deletion
- Location
- chr3:149178497 (GRCh38)
- Gene constraint
- LOEUF 0.624 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.79 · 4 PDB
- Residue 932
- an α-helix; the plastocyanin-like 6 domain
Disease context
aceruloplasminemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Aceruloplasminemia (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adult, Elderly
- Prevalence
- 1-9 / 1 000 000 (Japan)
Similar variants
- CP c.607+1del Pathogenic/Likely pathogenic ★★ same condition
- CP p.Pro689fs Pathogenic/Likely pathogenic ★★ same condition
- CP p.Met1* Uncertain significance ★★ same condition
- CP c.2286-15_2286-14del Benign/Likely benign ★★ same condition
- CP c.2286-15del Benign ★★ same condition
- CP c.2286-4del Benign/Likely benign ★★ same condition
- CP c.2078-75_2241del Likely pathogenic ★ same condition
- CP p.Ala675fs 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/cp-p-asp932fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown