ANKRD26 p.Glu602=
c.1806G>A · rs187923892 · VCV723707
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
rare (popmax 0.267%, afr)
Conditions
2
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.7 | GERP -3.6 |
| Overall | ||
| CADD | 0.442 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.267%
African / African-American · 200/75,026 alleles
Filtering AF
0.236%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.225%
Overall
0.0136%
219/1,612,942 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.267% | 375 |
| Admixed American | 0.015% | 6,665 |
| Remaining individualsnot grpmax-eligible | 0.0112% | 8,925 |
| European (non-Finnish) | 0.000254% | 393,164 |
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.Glu602=
- Coding
- c.1806G>A
- MANE Select
- NM_014915
- dbSNP
- rs187923892
- Type
- single nucleotide variant
- Location
- chr10:27048809 (GRCh38)
- Gene constraint
- LOEUF 0.728 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 62.91
- Residue 602
- the 'disordered' region
Similar variants
- ANKRD26 p.Glu602Gly Uncertain significance ★★ ⚠ same residue
- ANKRD26 c.-118C>T Pathogenic/Likely pathogenic ★★ same condition
- ANKRD26 c.-126T>C Pathogenic/Likely pathogenic ★★ same condition
- ANKRD26 c.-127A>T Pathogenic/Likely pathogenic ★★ same condition
- ANKRD26 c.-128G>A Pathogenic/Likely pathogenic ★★ same condition
- ANKRD26 c.-128G>T Pathogenic/Likely pathogenic ★★ same condition
- ANKRD26 c.-134G>A Pathogenic/Likely pathogenic ★★ same condition
- ANKRD26 c.4724+2T>A 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-glu602 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown