ANKRD26 p.Ser188=
c.564T>C · rs1564435102 · VCV2728022
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 8.48e-05%, nfe)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.38 | donor loss, 6 bp away · masked 0 · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.8 | GERP -3.7 |
| Overall | ||
| CADD | 5.55 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.48e-05%
European (non-Finnish) · 1/1,179,898 alleles
Overall
6.84e-05%
1/1,461,388 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
- ANKRD26
- Protein
- p.Ser188=
- Coding
- c.564T>C
- MANE Select
- NM_014915
- dbSNP
- rs1564435102
- Type
- single nucleotide variant
- Location
- chr10:27092480 (GRCh38)
- Gene constraint
- LOEUF 0.728 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 62.91
Similar variants
- ANKRD26 p.Ser188Arg Uncertain significance ★ ⚠ same residue
- ANKRD26 p.Ala1014Ser Uncertain significance ★★ ⚠ same condition
- ANKRD26 p.Ala1015Val Uncertain significance ★★ ⚠ same condition
- ANKRD26 p.Ala120Thr Uncertain significance ★★ ⚠ same condition
- ANKRD26 p.Ala1215Thr Uncertain significance ★★ ⚠ same condition
- ANKRD26 p.Ala1284Ser Uncertain significance ★★ ⚠ same condition
- ANKRD26 p.Ala1416Val Uncertain significance ★★ ⚠ same condition
- ANKRD26 p.Ala1503Ser Uncertain significance ★★ ⚠ 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/ankrd26-p-ser188 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown