ANKRD2 p.Ala285=
c.855A>G · rs143138428 · VCV773005
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.71%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.28 | acceptor loss, 2 bp away · masked 0 · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.97 | GERP -2.3, phastCons 0.86 |
| Overall | ||
| CADD | 8.158 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.71%
African / African-American · 2,026/74,692 alleles
Filtering AF
2.61%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.57%
Overall
0.145%
2,327/1,601,636 alleles · low-frequency
exomes 1,112/1,449,426 · genomes 1,215/152,210 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.71% | 37 |
| Remaining individualsnot grpmax-eligible | 0.213% | 469 |
| Admixed American | 0.137% | 732 |
| Middle Eastern | 0.0994% | 1,006 |
| European (non-Finnish) | 0.00664% | 15,063 |
| South Asian | 0.00564% | 17,744 |
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
- ANKRD2
- Protein
- p.Ala285=
- Coding
- c.855A>G
- MANE Select
- NM_001346793
- dbSNP
- rs143138428
- Type
- single nucleotide variant
- Location
- chr10:97583578 (GRCh38)
- Gene constraint
- LOEUF 1.426 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.30
Similar variants
- ANKRD2 p.Pro119Leu Benign/Likely benign ★★ ⚠ same type
- ANKRD2 p.Pro6Arg Benign ★★ same type
- ANKRD2 p.Ala10Val Uncertain significance ★ ⚠ same type
- ANKRD2 p.Ala128Val Uncertain significance ★ ⚠ same type
- ANKRD2 p.Ala12Thr Uncertain significance ★ ⚠ same type
- ANKRD2 p.Ala311Val Uncertain significance ★ ⚠ same type
- ANKRD2 p.Arg100Pro Uncertain significance ★ ⚠ same type
- ANKRD2 p.Arg155Gln 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/ankrd2-p-ala285 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown