Is NF2 p.Phe119del (c.354CTT[1]) pathogenic?

NF2 p.Phe119del (c.354CTT[1]) is classified Likely pathogenic in NF2 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2024-10-18). No gnomAD frequency available for this variant; Associated with NF2-related schwannomatosis.

What condition is associated with NF2 p.Phe119del (c.354CTT[1])?

NF2 p.Phe119del (c.354CTT[1]) is associated with NF2-related schwannomatosis (ClinVar).

How common is NF2 p.Phe119del (c.354CTT[1]) in the general population?

NF2 p.Phe119del (c.354CTT[1]) is no gnomAD frequency available for this variant (gnomAD).

How is Full NF2-related schwannomatosis inherited?

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

NF2 p.Phe119del

c.354CTT[1] · rs1555987732 · VCV547704

Likely pathogenic Multiple submitters

Classification

Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

NF2-related schwannomatosis

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.006	GERP -3.2, phastCons 0.016

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: NF2
Protein: p.Phe119del
Coding: c.354CTT[1]
MANE Select: NM_000268
dbSNP: rs1555987732
Type: Microsatellite
Location: chr22:29639201 (GRCh38)
Gene constraint: LOEUF 0.187 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 87.85 · 6 PDB
Residue 119: the ferm domain; a UniProt-annotated variant site (in sporadic meningioma; no effect on interaction with schip1); an α-helix

Full NF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

NF2-related schwannomatosis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Full NF2-related schwannomatosis (Orphanet):

Inheritance: Autosomal dominant
Onset: All ages
Prevalence: 1-9 / 100 000 (Europe)

Similar variants

NF2 p.Phe119= Likely benign ★★ same residue
NF2 p.Arg187fs Pathogenic/Likely pathogenic ★★ same condition
NF2 p.Glu445fs Pathogenic ★★ same condition
NF2 p.Gln115del Uncertain significance ★★ same condition
NF2 p.Glu422del Uncertain significance ★★ same condition
NF2 p.Phe592del Uncertain significance ★★ same condition
NF2 c.1738-17_1738-15del Likely benign ★★ same condition
NF2 p.Ala340fs 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/nf2-p-phe119del (accessed [today's date]).

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