Is PMP2 p.Arg79fs (c.235dup) pathogenic?

PMP2 p.Arg79fs (c.235dup) is classified Uncertain significance in PMP2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-07-21). No gnomAD frequency available for this variant.

How common is PMP2 p.Arg79fs (c.235dup) in the general population?

PMP2 p.Arg79fs (c.235dup) is no gnomAD frequency available for this variant (gnomAD).

PMP2 p.Arg79fs

c.235dup · rs2487481607 · VCV2018734

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 4
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.9	GERP 1.5, 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: PMP2
Protein: p.Arg79fs
Coding: c.235dup
MANE Select: NM_002677
dbSNP: rs2487481607
Type: Duplication
Location: chr8:81444827 (GRCh38)
Gene constraint: LOEUF 1.511 · pLI 0.01 (gnomAD)
Structure: AlphaFold pLDDT 96.49 · 30 PDB

Full PMP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/pmp2-p-arg79fs (accessed [today's date]).

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