Is ACP4 p.Arg76fs (c.227_244delinsA) pathogenic?

ACP4 p.Arg76fs (c.227244delinsA) is classified Likely pathogenic in ACP4 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-12-20). Absent from gnomAD.

How common is ACP4 p.Arg76fs (c.227_244delinsA) in the general population?

ACP4 p.Arg76fs (c.227_244delinsA) is absent from gnomAD (gnomAD).

ACP4 p.Arg76fs

c.227_244delinsA · rs2513787207 · VCV1723827

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 3 of 11
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.86	GERP -3.7, phastCons 0.24

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: ACP4
Protein: p.Arg76fs
Coding: c.227_244delinsA
MANE Select: NM_033068
dbSNP: rs2513787207
Type: Indel
Location: chr19:50790784 (GRCh38)
Gene constraint: LOEUF 1.413 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.30
Residue 76: a UniProt-annotated variant site (in ai1j and)

Full ACP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ACP4 p.Arg76His Uncertain significance ★ ⚠ same residue
ACP4 p.Arg76Cys Pathogenic ⚠ same residue
ACP4 p.Ala310Leu 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/acp4-p-arg76fs (accessed [today's date]).

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