Is CYBB p.Ile241fs (c.720_724del) pathogenic?

CYBB p.Ile241fs (c.720724del) is classified Pathogenic in CYBB (ClinVar, Multiple submitters, 2 submitters; last evaluated 2023-02-17). No gnomAD frequency available for this variant; Associated with CYBB-related disorders.

What condition is associated with CYBB p.Ile241fs (c.720_724del)?

CYBB p.Ile241fs (c.720_724del) is associated with CYBB-related disorders (ClinVar).

How common is CYBB p.Ile241fs (c.720_724del) in the general population?

CYBB p.Ile241fs (c.720_724del) is no gnomAD frequency available for this variant (gnomAD).

CYBB p.Ile241fs

c.720_724del · rs2519204505 · VCV2630151

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

CYBB-related disorders

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 haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 7 of 13
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.8	GERP -0.54, phastCons 0.99

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: CYBB
Protein: p.Ile241fs
Coding: c.720_724del
MANE Select: NM_000397
dbSNP: rs2519204505
Type: Deletion
Location: chrX:37798996 (GRCh38)
Structure: AlphaFold pLDDT 90.29 · 6 PDB
Residue 241: an α-helix; the ferric oxidoreductase domain

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

Disease context

CYBB-related disorders

Similar variants

CYBB p.Val123fs Likely pathogenic ★ same condition
CYBB p.Ile241Leu Likely benign ★ same residue
CYBB c.252+5G>A Pathogenic ★★ same condition
CYBB p.Ala156Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
CYBB p.Ala84= Pathogenic ★★ same condition
CYBB p.Arg226Ter Pathogenic ★★ same condition
CYBB p.Arg290Ter Pathogenic ★★ same condition
CYBB p.Arg73Ter 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/cybb-p-ile241fs (accessed [today's date]).

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