Is ACTB p.Asn296fs (c.887_888delinsG) pathogenic?

ACTB p.Asn296fs (c.887888delinsG) is classified Pathogenic in ACTB (ClinVar, Single submitter, 1 submitter; last evaluated 2025-05-23). Associated with Inborn genetic diseases.

What condition is associated with ACTB p.Asn296fs (c.887_888delinsG)?

ACTB p.Asn296fs (c.887_888delinsG) is associated with Inborn genetic diseases (ClinVar).

ACTB p.Asn296fs

c.887_888delinsG · VCV4001551

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 5 of 6
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.5	GERP 0.77, phastCons 1
Region caveats
Repeat context	seg dup	· reads may not map uniquely · confidence, not pathogenicity

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

Variant & gene context

Gene: ACTB
Protein: p.Asn296fs
Coding: c.887_888delinsG
MANE Select: NM_001101
Type: Indel
Location: chr7:5528100 (GRCh38)
Gene constraint: LOEUF 0.193 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 95.31 · 93 PDB

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ACTB p.Asn296Ser Uncertain significance ★ ⚠ same residue
ACTB p.Asn296Asp Uncertain significance ★ ⚠ same residue
ACTB p.Asn296Lys Uncertain significance ★ same residue
ACTB p.Arg196His Pathogenic ★★ same condition
ACTB p.Arg206Gln Pathogenic/Likely pathogenic ★★ same condition
ACTB p.Asp179Glu Uncertain significance ★★ ⚠ same condition
ACTB p.Thr229Ala Uncertain significance ★★ ⚠ same condition
ACTB p.Ala260Glu 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/actb-p-asn296fs (accessed [today's date]).

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