NF2 p.Phe283=
c.849C>T · rs1555997567 · VCV457927
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
NF2-related schwannomatosis
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.38 | GERP -2.3, phastCons 0.99 |
| Overall | ||
| CADD | 12.53 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- NF2
- Protein
- p.Phe283=
- Coding
- c.849C>T
- MANE Select
- NM_000268
- dbSNP
- rs1555997567
- Type
- single nucleotide variant
- Location
- chr22:29665028 (GRCh38)
- Gene constraint
- LOEUF 0.187 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 87.85 · 6 PDB
- Residue 283
- the ferm domain; a β-strand
Disease context
NF2-related schwannomatosis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Full NF2-related schwannomatosis (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- All ages
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- NF2 c.115-1G>A Likely pathogenic ★★ same condition
- NF2 c.1340+1G>T Pathogenic ★★ same condition
- NF2 c.1340+2T>G Pathogenic ★★ same condition
- NF2 c.1447-1G>A Pathogenic ★★ same condition
- NF2 c.1575-2A>G Pathogenic ★★ same condition
- NF2 c.1737+1G>T Pathogenic ★★ same condition
- NF2 c.1737+2T>C Pathogenic/Likely pathogenic ★★ same condition
- NF2 c.240+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/nf2-p-phe283 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown