Is ACTB p.Asp311fs (c.930_*52del) pathogenic?

ACTB p.Asp311fs (c.93052del) is classified Likely pathogenic in ACTB (ClinVar, Single submitter, 1 submitter; last evaluated 2020-10-23).

ACTB p.Asp311fs

c.930_*52del · VCV987424

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

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	escapes	premature termination codon in the last exon (6 of 6) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.1	GERP 1.8, 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.Asp311fs
Coding: c.930_*52del
MANE Select: NM_001101
Type: Deletion
Location: chr7:5527696 (GRCh38)
Gene constraint: LOEUF 0.193 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 95.31 · 93 PDB
Residue 311: an α-helix

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

Similar variants

ACTB p.Asp311Asn Uncertain significance ★ ⚠ same residue
ACTB p.Asp311Tyr Uncertain significance ★ ⚠ same residue
ACTB p.Asp311His Likely pathogenic same residue
ACTB c.985-1_989del Likely pathogenic ★ same type
ACTB p.Asp11del Likely pathogenic ★ same type
ACTB p.Gly48fs Pathogenic ★ same type
ACTB p.Leu110fs Pathogenic ★ same type
ACTB p.Ser300_Met305del Likely pathogenic ★ 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/actb-p-asp311fs (accessed [today's date]).

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