Is ACSL4 p.Val576fs (c.1726del) pathogenic?

ACSL4 p.Val576fs (c.1726del) is classified Uncertain significance in ACSL4 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-11-18). Absent from gnomAD v4.1.

How common is ACSL4 p.Val576fs (c.1726del) in the general population?

ACSL4 p.Val576fs (c.1726del) is absent from gnomAD v4.1 (gnomAD).

ACSL4 p.Val576fs

c.1726del · rs2520974779 · VCV2502487

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,204,392)

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 15 of 16
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 1.9, phastCons 1

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

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,204,392). 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: ACSL4
Protein: p.Val576fs
Coding: c.1726del
MANE Select: NM_001318510
dbSNP: rs2520974779
Type: Deletion
Location: chrX:109659483 (GRCh38)
Structure: AlphaFold pLDDT 90.46

Full ACSL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ACSL4 p.His282fs Pathogenic ★ same type
ACSL4 p.Leu268fs Pathogenic ★ same type
ACSL4 c.1583-7_1583-6del Uncertain significance ★ same type
ACSL4 p.Arg581fs Uncertain significance ★ same type
ACSL4 p.Pro334fs Uncertain significance ★ same type
ACSL4 p.Asn86fs 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/acsl4-p-val576fs (accessed [today's date]).

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