ANK2 p.Gln770=
c.2310G>A · rs756398380 · VCV1246872
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0067%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.3 | GERP -0.18, phastCons 1 |
| Overall | ||
| CADD | 9.25 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0067%
East Asian · 3/44,768 alleles
Filtering AF
0.00178%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000893%
Overall
0.000186%
3/1,611,478 alleles · very rare
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ANK2
- Protein
- p.Gln770=
- Coding
- c.2310G>A
- MANE Select
- NM_001148
- dbSNP
- rs756398380
- Type
- single nucleotide variant
- Location
- chr4:113292448 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 770
- an α-helix
Similar variants
- 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
- ANK2 c.11032+11G>T Uncertain significance ★★ same type
- ANK2 c.11611-3T>A 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-gln770 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown