ANK2 p.Arg982Gly
c.2944C>G · VCV3899831
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely pathogenic
0.9866 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| AlphaMissense | 0.9866 | likely pathogenic · top 9% in ANK2 |
|---|---|---|
| REVEL | 0.507 | indeterminate |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.26 | GERP -2.3, phastCons 0.98 |
| Regional constraint | o/e 0.77 | unconstrained · MANE · 98 kb · p 4.4e-21 · regional, not allelic |
| Overall | ||
| CADD | 22.5 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ANK2
- Protein
- p.Arg982Gly
- Coding
- c.2944C>G
- MANE Select
- NM_001148
- Type
- single nucleotide variant
- Location
- chr4:113330289 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 982
- a β-strand; the zu5 1 domain; the 'interaction with sptbn1' region
Similar variants
- ANK2 p.Arg982Gln Uncertain significance ★★ same residue
- ANK2 p.Arg982Ter Conflicting classifications of pathogenicity ★ ⚠ same residue
- ANK2 p.Arg1007Ter Pathogenic/Likely pathogenic ★★ same type
- ANK2 p.Arg1088Ter Pathogenic ★★ same type
- ANK2 p.Arg3113Ter Pathogenic ★★ same type
- ANK2 p.Arg888Ter Pathogenic/Likely pathogenic ★★ same type
- ANK2 p.Arg895Ter Pathogenic/Likely pathogenic ★★ same type
- ANK2 p.Arg977Ter 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-arg982gly (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown