ANK2 c.669+70del
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +70 | deep intronic (+70 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -2.9 | GERP -4.2 |
| Non-coding constraint | Z 0.23 | 1 kb window · o/e 0.98 · regional · uncalibrated |
| Overall | ||
| CADD | 5.845 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Finnishnot grpmax-eligible | 5.53% | 18 |
| Amishnot grpmax-eligible | 3.18% | 31 |
| European (non-Finnish)grpmax | 3.08% | 32 |
| Middle Eastern | 2.68% | 37 |
| Remaining individualsnot grpmax-eligible | 2.16% | 46 |
| Admixed American | 1.68% | 60 |
| Ashkenazi Jewishnot grpmax-eligible | 1.04% | 96 |
| African / African-American | 0.781% | 128 |
| South Asian | 0.747% | 134 |
| East Asian | 0.0045% | 22,235 |
Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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.669+70del
- MANE Select
- NM_001148
- dbSNP
- rs201519224
- Type
- Deletion
- Location
- chr4:113237240 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
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.Arg985fs Pathogenic ★ same type
- ANK2 p.Asp3039fs 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-c-669-plus-70del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown