Is F7 p.Glu27fs (c.80del) pathogenic?

F7 p.Glu27fs (c.80del) is classified Likely pathogenic in F7 (ClinVar, Single submitter, 1 submitter). Associated with myocardial infarction, susceptibility to.

What condition is associated with F7 p.Glu27fs (c.80del)?

F7 p.Glu27fs (c.80del) is associated with myocardial infarction, susceptibility to, congenital factor VII deficiency (ClinVar).

F7 p.Glu27fs

c.80del · VCV3382418

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

myocardial infarction, susceptibility to

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 2 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.4	GERP -0.66, phastCons 1

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

Variant & gene context

Gene: F7
Protein: p.Glu27fs
Coding: c.80del
MANE Select: NM_019616
Type: Deletion
Location: chr13:113110705 (GRCh38)
Gene constraint: LOEUF 1.113 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 82.64 · 114 PDB

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

Disease context

myocardial infarction, susceptibility to — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: congenital factor VII deficiency

Similar variants

F7 p.Pro442fs Pathogenic/Likely pathogenic ★★ same condition
F7 p.Glu27Lys Uncertain significance ★★ ⚠ same residue
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.Arg262fs Pathogenic same condition
F7 c.225+1G>C Pathogenic ★★ same condition
F7 c.364+1G>A Pathogenic/Likely 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/f7-p-glu27fs (accessed [today's date]).

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