ANK2 p.Arg3906=
c.11718G>A · rs35724152 · VCV215487
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 7 submitters
gnomAD v4.1
Rare
rare (popmax 0.388%, afr)
Conditions
3
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| REVEL | 0.253 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | Δ0.26 | acceptor gain · deltas |
| Constraint at this position | ||
| Conservation | phyloP 0.93 | GERP -0.097, phastCons 1 |
| Overall | ||
| CADD | 11.49 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.388%
African / African-American · 291/75,034 alleles
Filtering AF
0.351%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.337%
Overall
0.0213%
344/1,614,136 alleles · rare
exomes 165/1,461,836 · genomes 179/152,300 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.388% | 258 |
| Admixed American | 0.0533% | 1,876 |
| Remaining individualsnot grpmax-eligible | 0.0272% | 3,677 |
| South Asian | 0.0011% | 91,076 |
| European (non-Finnish) | 0.000254% | 393,332 |
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.Arg3906=
- Coding
- c.11718G>A
- MANE Select
- NM_001148
- dbSNP
- rs35724152
- Type
- single nucleotide variant
- Location
- chr4:113373308 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 3906
- a UniProt-annotated variant site (in lqt4; loss of function)
Similar variants
- ANK2 p.Arg3906Gln Uncertain significance ★★ same residue
- ANK2 p.Arg3906Pro Uncertain significance ★ ⚠ same residue
- ANK2 p.Arg3906Trp Conflicting classifications of pathogenicity ★ ⚠ same residue
- ANK2 p.Arg1007Ter Pathogenic/Likely pathogenic ★★ same condition
- ANK2 p.Arg1088Ter Pathogenic ★★ same condition
- ANK2 p.Arg3113Ter Pathogenic ★★ same condition
- ANK2 p.Arg895Ter Pathogenic/Likely pathogenic ★★ same condition
- ANK2 p.Arg977Ter Pathogenic ★★ 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-arg3906 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown