Is F7 p.Arg262fs (c.783_799del) pathogenic?

F7 p.Arg262fs (c.783799del) is classified Pathogenic in F7 (ClinVar, No assertion criteria, 2 submitters; last evaluated 1994-07-01). Absent from gnomAD; Associated with congenital factor VII deficiency.

What condition is associated with F7 p.Arg262fs (c.783_799del)?

F7 p.Arg262fs (c.783_799del) is associated with congenital factor VII deficiency, factor VII deficiency (ClinVar).

How common is F7 p.Arg262fs (c.783_799del) in the general population?

F7 p.Arg262fs (c.783_799del) is absent from gnomAD (gnomAD).

How is Congenital factor VII deficiency inherited?

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

F7 p.Arg262fs

c.783_799del · rs786205091 · VCV12077

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

congenital factor VII deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (8 of 8) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.4	GERP -2.3, phastCons 0.029

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: F7
Protein: p.Arg262fs
Coding: c.783_799del
MANE Select: NM_019616
dbSNP: rs786205091
Type: Deletion
Location: chr13:113118456 (GRCh38)
Gene constraint: LOEUF 1.113 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 82.64 · 114 PDB
Residue 262: an α-helix; a disulfide bond; the peptidase s1 domain

Full F7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

congenital factor VII deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: factor VII deficiency

For Congenital factor VII deficiency (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: All ages
Prevalence: 1-9 / 1 000 000 (Europe)

Similar variants

F7 p.Arg262Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
F7 p.Pro442fs Pathogenic/Likely pathogenic ★★ same condition
F7 p.Glu27fs Likely pathogenic ★ same condition
F7 p.Leu251_Asp255del Likely pathogenic ★ same condition
F7 p.Leu325fs Likely pathogenic ★ same condition
F7 p.Val291fs Likely pathogenic ★ same condition
F7 c.739+7_739+43del Conflicting classifications of pathogenicity ★ same condition
F7 p.Arg262Trp Uncertain significance ★ ⚠ same residue

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/f7-p-arg262fs (accessed [today's date]).

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