Is AAGAB p.Phe67fs (c.201_204del) pathogenic?

AAGAB p.Phe67fs (c.201204del) is classified Pathogenic in AAGAB (ClinVar, No assertion criteria, 1 submitter; last evaluated 2012-11-01). Absent from gnomAD; Associated with palmoplantar keratoderma, punctate type 1A.

What condition is associated with AAGAB p.Phe67fs (c.201_204del)?

AAGAB p.Phe67fs (c.201_204del) is associated with palmoplantar keratoderma, punctate type 1A (ClinVar).

How common is AAGAB p.Phe67fs (c.201_204del) in the general population?

AAGAB p.Phe67fs (c.201_204del) is absent from gnomAD (gnomAD).

How is Punctate palmoplantar keratoderma type 1 inherited?

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

AAGAB p.Phe67fs

c.201_204del · rs1567027610 · VCV39736

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

palmoplantar keratoderma, punctate type 1A

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 2 of 10
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -2.5	GERP -3.2

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: AAGAB
Protein: p.Phe67fs
Coding: c.201_204del
MANE Select: NM_024666
dbSNP: rs1567027610
Type: Deletion
Location: chr15:67236690 (GRCh38)
Gene constraint: LOEUF 1.156 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 80.41 · 3 PDB
Residue 67: an α-helix

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

Disease context

palmoplantar keratoderma, punctate type 1A — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Punctate palmoplantar keratoderma type 1 (Orphanet):

Inheritance: Autosomal dominant
Onset: Adolescent, Adult

Similar variants

AAGAB c.451+3_451+6del Pathogenic ★★ same condition
AAGAB p.Gly158fs Pathogenic ★★ same condition
AAGAB p.Arg124Ter Pathogenic ★★ same condition
AAGAB p.Arg161Ter Pathogenic ★★ same condition
AAGAB p.Gln21Ter Pathogenic ★★ same condition
AAGAB c.264+33A>G Benign ★★ same condition
AAGAB c.536-95G>A Benign ★★ same condition
AAGAB c.618+18A>G Benign ★★ 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/aagab-p-phe67fs (accessed [today's date]).

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