ANK2 p.Thr2177del
c.6526ACA[1] · rs749429192 · VCV580135
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.022%, sas)
Conditions
2
long QT syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.093 | GERP -3.1, phastCons 0.002 |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.022%
South Asian · 20/91,088 alleles
Filtering AF
0.0145%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0121%
Overall
0.00198%
29/1,461,820 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.022% | 4,554 |
| Middle Eastern | 0.0165% | 6,060 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,837 |
| Admixed American | 0.00333% | 30,008 |
| European (non-Finnish) | 0.000254% | 393,334 |
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.Thr2177del
- Coding
- c.6526ACA[1]
- MANE Select
- NM_001148
- dbSNP
- rs749429192
- Type
- Microsatellite
- Location
- chr4:113355144 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Similar variants
- ANK2 p.Thr2177= Likely benign ★ same residue
- ANK2 p.Ser2624del Uncertain significance ★★ same condition
- ANK2 c.10889-5_10889-4del Likely benign ★★ same condition
- ANK2 c.11032+20TG[10] Likely benign ★★ same condition
- ANK2 c.11032+20TG[12] Benign ★★ same condition
- ANK2 c.11032+20TG[13] Benign/Likely benign ★★ same condition
- ANK2 c.11032+20TG[14] Benign/Likely benign ★★ same condition
- ANK2 c.11032+20TG[16] Benign ★★ 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-thr2177del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown