Is AK2 p.Asp113del (c.336_338del) pathogenic?

AK2 p.Asp113del (c.336338del) is classified Uncertain significance in AK2 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-05-01). Absent from gnomAD; Associated with reticular dysgenesis.

What condition is associated with AK2 p.Asp113del (c.336_338del)?

AK2 p.Asp113del (c.336_338del) is associated with reticular dysgenesis (ClinVar).

How common is AK2 p.Asp113del (c.336_338del) in the general population?

AK2 p.Asp113del (c.336_338del) is absent from gnomAD (gnomAD).

How is Reticular dysgenesis inherited?

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

AK2 p.Asp113del

c.336_338del · rs1639549493 · VCV840748

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

reticular dysgenesis

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 4.6	GERP 1.8, phastCons 1

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: AK2
Protein: p.Asp113del
Coding: c.336_338del
MANE Select: NM_001625
dbSNP: rs1639549493
Type: Deletion
Location: chr1:33021454 (GRCh38)
Gene constraint: LOEUF 0.954 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 90.49 · 3 PDB
Residue 113: an α-helix

Full AK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

reticular dysgenesis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Reticular dysgenesis (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal
Prevalence: <1 / 1 000 000 (Europe)

Similar variants

AK2 p.Ala212_Ter240delinsXaa Likely pathogenic ★ same condition
AK2 p.Gly205fs Likely pathogenic ★ same condition
AK2 p.Tyr152fs Pathogenic ★ same condition
AK2 c.220-5del Likely benign ★ same condition
AK2 c.426-17_426-14del Likely benign ★ same condition
AK2 p.Arg175fs Pathogenic same condition
AK2 p.Cys40fs Pathogenic same condition
AK2 p.Ser213fs 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/ak2-p-asp113del (accessed [today's date]).

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