Is CP p.Ala828fs (c.2482del) pathogenic?

CP p.Ala828fs (c.2482del) is classified Pathogenic in CP (ClinVar, No assertion criteria, 1 submitter; last evaluated 2013-04-18). Absent from gnomAD; Associated with aceruloplasminemia.

What condition is associated with CP p.Ala828fs (c.2482del)?

CP p.Ala828fs (c.2482del) is associated with aceruloplasminemia (ClinVar).

How common is CP p.Ala828fs (c.2482del) in the general population?

CP p.Ala828fs (c.2482del) is absent from gnomAD (gnomAD).

How is Aceruloplasminemia inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

CP p.Ala828fs

c.2482del · rs386134150 · VCV42150

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

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 14 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.9	GERP 2.2, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: CP
Protein: p.Ala828fs
Coding: c.2482del
MANE Select: NM_000096
dbSNP: rs386134150
Type: Deletion
Location: chr3:149182077 (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 828: a β-strand; the plastocyanin-like 5 domain

Full CP gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

aceruloplasminemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Aceruloplasminemia (Orphanet):

Inheritance: Autosomal recessive
Onset: Adult, Elderly
Prevalence: 1-9 / 1 000 000 (Japan)

Similar variants

CP p.Ala828Thr Uncertain significance ★ ⚠ same residue
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

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-ala828fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown