Is ANK2 p.Pro1068fs (c.3201dup) pathogenic?

ANK2 p.Pro1068fs (c.3201dup) is classified Likely pathogenic in ANK2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-08-16). Absent from gnomAD.

How common is ANK2 p.Pro1068fs (c.3201dup) in the general population?

ANK2 p.Pro1068fs (c.3201dup) is absent from gnomAD (gnomAD).

ANK2 p.Pro1068fs

c.3201dup · rs2502464213 · VCV2576797

Likely pathogenic Single submitter

Classification

Likely pathogenic

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 in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 28 of 46
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 2.5, 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: ANK2
Protein: p.Pro1068fs
Coding: c.3201dup
MANE Select: NM_001148
dbSNP: rs2502464213
Type: Duplication
Location: chr4:113332043 (GRCh38)
Gene constraint: LOEUF 0.271 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 1068: the zu5 1 domain; the 'interaction with sptbn1' region

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

Similar variants

ANK2 c.11695-4dup Likely benign ★★ same type
ANK2 c.4248+6dup Likely benign ★★ same type
ANK2 p.Ala1405fs Pathogenic ★ same type
ANK2 p.Glu1100Ter Pathogenic ★ same type
ANK2 p.Gly2083fs Pathogenic ★ same type
ANK2 p.Thr3457fs Pathogenic ★ same type
ANK2 p.Val1095fs Pathogenic ★ same type
ANK2 c.2685_2693+30dup Uncertain significance ★ same type

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-pro1068fs (accessed [today's date]).

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