Is ANK2 p.Pro3080fs (c.9239del) pathogenic?

ANK2 p.Pro3080fs (c.9239del) is classified Pathogenic in ANK2 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-11-25). Associated with Cardiovascular phenotype.

What condition is associated with ANK2 p.Pro3080fs (c.9239del)?

ANK2 p.Pro3080fs (c.9239del) is associated with Cardiovascular phenotype (ClinVar).

ANK2 p.Pro3080fs

c.9239del · VCV4613598

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Cardiovascular phenotype

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 38 of 46
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2.9, phastCons 1

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

Variant & gene context

Gene: ANK2
Protein: p.Pro3080fs
Coding: c.9239del
MANE Select: NM_001148
Type: Deletion
Location: chr4:113357854 (GRCh38)
Gene constraint: LOEUF 0.271 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 3080: the 'disordered' region

Full ANK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ANK2 p.Pro3080Arg Uncertain significance ★ ⚠ same residue
ANK2 p.Lys2252_Lys2253insTer Pathogenic/Likely pathogenic ★★ same condition
ANK2 c.2901-3del Uncertain significance ★★ same condition
ANK2 p.Asp3039fs Pathogenic ★ same condition
ANK2 p.Glu1816fs Pathogenic ★ same condition
ANK2 p.Gly761fs Pathogenic ★ same condition
ANK2 c.1486-13_1486-4del Uncertain significance ★ same condition
ANK2 c.2377-7_2377-4del Conflicting classifications of pathogenicity ★ 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/ank2-p-pro3080fs (accessed [today's date]).

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