Is NCF1 p.Val271fs (c.811del) pathogenic?

NCF1 p.Val271fs (c.811del) is classified Pathogenic in NCF1 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2001-01-01). Absent from gnomAD; Associated with granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1.

How common is NCF1 p.Val271fs (c.811del) in the general population?

NCF1 p.Val271fs (c.811del) is absent from gnomAD (gnomAD).

How is Chronic granulomatous disease inherited?

Typically Autosomal recessive, X-linked recessive (Orphanet). A genetic counselor can assess individual risk for a family.

NCF1 p.Val271fs

Q: What condition is associated with NCF1 p.Val271fs (c.811del)?

NCF1 p.Val271fs (c.811del) is associated with granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 (ClinVar).

c.811del · rs1307080411 · VCV2252

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1

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 9 of 11
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -8.7
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.

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: NCF1
Protein: p.Val271fs
Coding: c.811del
MANE Select: NM_000265
dbSNP: rs1307080411
Type: Deletion
Location: chr7:74787994 (GRCh38)
Gene constraint: LOEUF 0.617 · pLI 0.82 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 83.16 · 11 PDB
Residue 271: the sh3 2 domain; a β-strand

Full NCF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Chronic granulomatous disease (Orphanet):

Inheritance: Autosomal recessive, X-linked recessive
Onset: Adolescent, Adult, Childhood, Infancy
Prevalence: 1-9 / 1 000 000 (Worldwide)

Similar variants

NCF1 p.Glu168fs Pathogenic same condition
NCF1 p.Arg42Gln Pathogenic ★★ same condition
NCF1 c.682+5C>T Uncertain significance ★ same condition
NCF1 p.Cys111Ter Pathogenic same condition
NCF1 p.Gln91Ter Pathogenic same condition
NCF1 p.Ala308Val Likely benign 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/ncf1-p-val271fs (accessed [today's date]).

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