Is NF2 p.Ser156fs (c.465dup) pathogenic?

NF2 p.Ser156fs (c.465dup) is classified Pathogenic in NF2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-02-24). No gnomAD frequency available for this variant; Associated with hereditary neoplastic syndrome.

What condition is associated with NF2 p.Ser156fs (c.465dup)?

NF2 p.Ser156fs (c.465dup) is associated with hereditary neoplastic syndrome (ClinVar).

How common is NF2 p.Ser156fs (c.465dup) in the general population?

NF2 p.Ser156fs (c.465dup) is no gnomAD frequency available for this variant (gnomAD).

NF2 p.Ser156fs

c.465dup · rs1555992948 · VCV1742237

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

hereditary neoplastic syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 5 of 16
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2.1, 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: NF2
Protein: p.Ser156fs
Coding: c.465dup
MANE Select: NM_000268
dbSNP: rs1555992948
Type: Duplication
Location: chr22:29654670 (GRCh38)
Gene constraint: LOEUF 0.187 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 87.85 · 6 PDB
Residue 156: the ferm domain; a turn

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

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

NF2 p.Ser156= Likely benign ★★ same residue
NF2 p.Ser156Asn Conflicting classifications of pathogenicity ★ ⚠ same residue
NF2 p.Arg411fs Pathogenic ★★ same condition
NF2 p.Arg160fs Pathogenic ★ same condition
NF2 p.Tyr150Ter Pathogenic ★ same condition
NF2 p.Ser156Cys Uncertain significance ★ ⚠ same residue
NF2 c.1447-147_1447-8del Likely pathogenic ★★ same condition
NF2 c.1575-2A>G 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-ser156fs (accessed [today's date]).

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