Is CP p.Phe773fs (c.2309_2316dup) pathogenic?

CP p.Phe773fs (c.23092316dup) is classified Pathogenic in CP (ClinVar, Single submitter, 1 submitter; last evaluated 2025-11-11). Associated with aceruloplasminemia.

What condition is associated with CP p.Phe773fs (c.2309_2316dup)?

CP p.Phe773fs (c.2309_2316dup) is associated with aceruloplasminemia (ClinVar).

How is Aceruloplasminemia inherited?

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

CP p.Phe773fs

c.2309_2316dup · VCV4730932

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

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 13 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.6	GERP 1.9, phastCons 1

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

Variant & gene context

Gene: CP
Protein: p.Phe773fs
Coding: c.2309_2316dup
MANE Select: NM_000096
Type: Duplication
Location: chr3:149183574 (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 773: a turn; 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

HPS3 p.Thr773fs Pathogenic/Likely pathogenic ★★ same residue
CP c.2286-14dup Benign ★★ same condition
CP p.Arg902fs Pathogenic ★ same condition
CP p.Glu410Ter Pathogenic ★ same condition
CP c.1209-11dup Benign ★ same condition
CP c.2554+19dup Benign ★ same condition
CP c.3018+9_3018+12dup Likely benign ★ same condition
CP p.Asp203fs 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-phe773fs (accessed [today's date]).

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