Is VWF p.Phe92fs (c.276del) pathogenic?

VWF p.Phe92fs (c.276del) is classified Pathogenic in VWF (ClinVar, No assertion criteria, 2 submitters; last evaluated 2021-04-12). No gnomAD frequency available for this variant; Associated with von Willebrand disease 3.

What condition is associated with VWF p.Phe92fs (c.276del)?

VWF p.Phe92fs (c.276del) is associated with von Willebrand disease 3 (ClinVar).

How common is VWF p.Phe92fs (c.276del) in the general population?

VWF p.Phe92fs (c.276del) is no gnomAD frequency available for this variant (gnomAD).

How is Von Willebrand disease inherited?

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

VWF p.Phe92fs

c.276del · rs61753988 · VCV100238

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

von Willebrand disease 3

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 4 of 52
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.9	phastCons 1

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: VWF
Protein: p.Phe92fs
Coding: c.276del
MANE Select: NM_000552
dbSNP: rs61753988
Type: Deletion
Location: chr12:6110913 (GRCh38)
Gene constraint: LOEUF 0.639 · pLI <0.01 (gnomAD)
Residue 92: a β-strand; the vwfd 1 domain

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

Disease context

von Willebrand disease 3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Von Willebrand disease (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: All ages
Prevalence: 1-5 / 10 000 (Worldwide)

Similar variants

VWF c.5314delG Pathogenic ★★ same condition
VWF p.Gln104fs Pathogenic ★★ same condition
VWF p.Gly839fs Pathogenic/Likely pathogenic ★★ same condition
VWF p.Leu1781fs Pathogenic/Likely pathogenic ★★ same condition
VWF p.Leu757fs Pathogenic/Likely pathogenic ★★ same condition
VWF p.Pro812fs Pathogenic ★★ same condition
VWF p.Leu1696del Uncertain significance ★★ same condition
VWF c.533-48_657+52del 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/vwf-p-phe92fs (accessed [today's date]).

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