ANKRD20A1 p.Asp756=
c.2268T>C · rs1247811040 · VCV3025337
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 3.83%, afr)
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 -7.6 | GERP 1.9 |
| Overall | ||
| CADD | 2.093 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.83%
African / African-American · 1,397/36,436 alleles
Filtering AF
3.67%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.6%
Overall
0.224%
1,752/782,948 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.83% | 26 |
| Admixed American | 0.44% | 227 |
| Remaining individualsnot grpmax-eligible | 0.422% | 237 |
| Middle Eastern | 0.147% | 680 |
| South Asian | 0.0227% | 4,404 |
| European (non-Finnish) | 0.014% | 7,133 |
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
- ANKRD20A1
- Protein
- p.Asp756=
- Coding
- c.2268T>C
- MANE Select
- NM_032250
- dbSNP
- rs1247811040
- Type
- single nucleotide variant
- Location
- chr9:67901263 (GRCh38)
- Gene constraint
- LOEUF 0.512 · pLI 0.94 (gnomAD)
- Structure
- AlphaFold pLDDT 69.38
Similar variants
- ANKRD20A1 p.Ala173= Likely benign ★ same type
- ANKRD20A1 p.Asp545= Likely benign ★ same type
- ANKRD20A1 p.His620Tyr Likely benign ★ 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/ankrd20a1-p-asp756 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown