Is ANK1 p.Ala1768fs (c.5302del) pathogenic?

ANK1 p.Ala1768fs (c.5302del) is classified Likely pathogenic in ANK1 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-03-27). Associated with ANK1-related disorder.

What condition is associated with ANK1 p.Ala1768fs (c.5302del)?

ANK1 p.Ala1768fs (c.5302del) is associated with ANK1-related disorder (ClinVar).

ANK1 p.Ala1768fs

c.5302del · VCV4900012

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

ANK1-related disorder

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 LoF-intolerant gene
NMD	predicted	premature termination codon in exon 39 of 43
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2	GERP 1.3, phastCons 0.012

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: ANK1
Protein: p.Ala1768fs
Coding: c.5302del
MANE Select: NM_000037
Type: Deletion
Location: chr8:41668359 (GRCh38)
Gene constraint: LOEUF 0.299 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 69.64 · 21 PDB
Residue 1768: the '55 kda regulatory domain' region; the 'disordered' region

Full ANK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ANK1-related disorder

Similar variants

ANK1 p.Asn568fs Likely pathogenic ★ same condition
ANK1 p.Gly592fs Pathogenic ★ same condition
ANK1 p.His1142fs Pathogenic ★ same condition
ANK1 p.His739fs Likely pathogenic ★ same condition
ANK1 p.Ile164fs Likely pathogenic ★ same condition
ANK1 p.Leu177fs Likely pathogenic ★ same condition
ANK1 p.Lys1826fs Likely pathogenic ★ same condition
ANK1 p.Tyr1514fs 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/ank1-p-ala1768fs (accessed [today's date]).

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