ANK2 c.285+101G>A
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 30.7%, eas) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +101 | deep intronic (+101 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.43 | GERP -0.55, phastCons 0.02 |
| Non-coding constraint | Z -1.05 | 1 kb window · o/e 1.08 · regional · uncalibrated |
| Overall | ||
| CADD | 10.06 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
30.7%
East Asian · 11,672/38,040 alleles
Filtering AF
30.2%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 30%
Overall
13.4%
147,909/1,100,698 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 30.7% | 3 |
| African / African-American | 18.3% | 5 |
| Finnishnot grpmax-eligible | 17.8% | 6 |
| Ashkenazi Jewishnot grpmax-eligible | 16.7% | 6 |
| Amishnot grpmax-eligible | 14.6% | 7 |
| Remaining individualsnot grpmax-eligible | 13.6% | 7 |
| South Asian | 12.5% | 8 |
| Admixed American | 12.2% | 8 |
| European (non-Finnish) | 11.9% | 8 |
| Middle Eastern | 10.9% | 9 |
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
- Coding
- c.285+101G>A
- MANE Select
- NM_001148
- dbSNP
- rs2285709
- Type
- single nucleotide variant
- Location
- chr4:113196567 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
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-c-285-plus-101g-a (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown