ANKRD26 c.357+18C>A
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0066%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +18 | near-intronic (+18 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -20 | GERP -3.6 |
| Non-coding constraint | Z 0.79 | 1 kb window · o/e 0.92 · regional · uncalibrated |
| Overall | ||
| CADD | 2.126 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0066%
South Asian · 6/90,946 alleles
Filtering AF
0.00287%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00195%
Overall
0.000412%
6/1,455,952 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
- Coding
- c.357+18C>A
- MANE Select
- NM_014915
- Type
- single nucleotide variant
- Location
- chr10:27093667 (GRCh38)
- Gene constraint
- LOEUF 0.728 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 62.91
Similar variants
- ANKRD26 c.-118C>A Pathogenic/Likely pathogenic ★★ same type
- ANKRD26 c.-118C>T Pathogenic/Likely pathogenic ★★ same type
- ANKRD26 c.-126T>C Pathogenic/Likely pathogenic ★★ same type
- ANKRD26 c.-127A>T Pathogenic/Likely pathogenic ★★ same type
- ANKRD26 c.-128G>A Pathogenic/Likely pathogenic ★★ same type
- ANKRD26 c.-128G>T Pathogenic/Likely pathogenic ★★ same type
- ANKRD26 c.-134G>A Pathogenic/Likely pathogenic ★★ same type
- ANKRD26 c.1269+1G>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/ankrd26-c-357-plus-18c-a (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown