ANKRD2 p.Pro6Arg
c.17C>G · rs12219064 · VCV768382
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 50.4%, eas) — too common for a highly-penetrant pathogenic allele
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 0.27 | GERP -3.7 |
| Overall | ||
| CADD | 5.128 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
50.4%
East Asian · 16,782/33,320 alleles
Filtering AF
49.7%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 49.5%
Overall
30.3%
157,940/521,568 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 50.4% | 2 |
| Amishnot grpmax-eligible | 47.2% | 2 |
| South Asian | 42.1% | 2 |
| Finnishnot grpmax-eligible | 35.7% | 3 |
| Remaining individualsnot grpmax-eligible | 29.6% | 3 |
| Admixed American | 28.9% | 3 |
| Middle Eastern | 28% | 4 |
| European (non-Finnish) | 27.3% | 4 |
| Ashkenazi Jewishnot grpmax-eligible | 26.8% | 4 |
| African / African-American | 25.3% | 4 |
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.Pro6Arg
- Coding
- c.17C>G
- MANE Select
- NM_001346793 · reported on NM_001291218
- dbSNP
- rs12219064
- Type
- single nucleotide variant
- Location
- chr10:97572466 (GRCh38)
- Gene constraint
- LOEUF 1.426 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.30
- Residue 6
- the 'may mediate interaction with pml, p53/tp53 and ybx1' region
Similar variants
- ANKRD2 p.Glu6Lys Uncertain significance ★ ⚠ same residue
- ANKRD2 p.Ala285= Benign ★★ same type
- ANKRD2 p.Pro119Leu Benign/Likely 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
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-pro6arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown