ANKRD17 p.Ala1298=
c.3894G>A · rs139894750 · VCV3034412
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.537%, 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 1.2 | GERP 0.79, phastCons 1 |
| Overall | ||
| CADD | 13.48 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.537%
African / African-American · 403/74,992 alleles
Filtering AF
0.494%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.477%
Overall
0.181%
2,926/1,614,016 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.537% | 186 |
| Middle Eastern | 0.412% | 242 |
| South Asian | 0.276% | 363 |
| Remaining individualsnot grpmax-eligible | 0.269% | 372 |
| Admixed American | 0.19% | 526 |
| European (non-Finnish) | 0.165% | 605 |
| Finnishnot grpmax-eligible | 0.0187% | 5,334 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,602 |
| East Asian | 0.00223% | 44,866 |
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
- ANKRD17
- Protein
- p.Ala1298=
- Coding
- c.3894G>A
- MANE Select
- NM_032217
- dbSNP
- rs139894750
- Type
- single nucleotide variant
- Location
- chr4:73120293 (GRCh38)
- Gene constraint
- LOEUF 0.118 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 53.73
- Residue 1298
- a UniProt-annotated variant site (in cags)
Similar variants
- ANKRD17 p.Ala1298Val Uncertain significance ★ ⚠ same residue
- ANKRD17 p.Arg1712His Uncertain significance ★★ ⚠ same type
- ANKRD17 p.Arg418Gln Uncertain significance ★★ ⚠ same type
- ANKRD17 p.Arg52Cys Uncertain significance ★★ ⚠ same type
- ANKRD17 p.Asn1251Ser Uncertain significance ★★ ⚠ same type
- ANKRD17 p.Asn2416Ser Uncertain significance ★★ ⚠ same type
- ANKRD17 p.Asp1586Gly Uncertain significance ★★ ⚠ same type
- ANKRD17 p.Cys1690Tyr 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/ankrd17-p-ala1298 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown