Is ANK2 p.Arg985fs (c.2954_2955del) pathogenic?

ANK2 p.Arg985fs (c.29542955del) is classified Pathogenic in ANK2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-02-09). Absent from gnomAD.

How common is ANK2 p.Arg985fs (c.2954_2955del) in the general population?

ANK2 p.Arg985fs (c.2954_2955del) is absent from gnomAD (gnomAD).

ANK2 p.Arg985fs

c.2954_2955del · rs2502136452 · VCV2575852

Pathogenic Single submitter

Classification

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 27 of 46
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.8	GERP 1.6, 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.Arg985fs
Coding: c.2954_2955del
MANE Select: NM_001148
dbSNP: rs2502136452
Type: Deletion
Location: chr4:113330298 (GRCh38)
Gene constraint: LOEUF 0.271 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 985: a β-strand; 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 p.Gly3456fs Pathogenic/Likely pathogenic ★★ same type
ANK2 p.Lys2252_Lys2253insTer Pathogenic/Likely pathogenic ★★ same type
ANK2 c.2901-3del Uncertain significance ★★ same type
ANK2 c.11032+19_11032+20del Benign/Likely benign ★★ same type
ANK2 p.Ala1529fs Likely pathogenic ★ same type
ANK2 p.Arg3454fs Likely pathogenic ★ same type
ANK2 p.Asp3039fs Pathogenic ★ same type
ANK2 p.Asp3081fs Pathogenic ★ 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-arg985fs (accessed [today's date]).

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