ANKRD17 p.Ala1233=
c.3699T>C · VCV3904970
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0182%, nfe)
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 -1.3 | GERP -4.2 |
| Overall | ||
| CADD | 7.096 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0182%
European (non-Finnish) · 215/1,179,910 alleles
Filtering AF
0.0162%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0154%
Overall
0.0144%
233/1,613,976 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0182% | 5,488 |
| Remaining individualsnot grpmax-eligible | 0.0144% | 6,944 |
| Finnishnot grpmax-eligible | 0.00469% | 21,342 |
| African / African-American | 0.004% | 25,012 |
| East Asian | 0.00223% | 44,844 |
| Admixed American | 0.00167% | 60,012 |
| South Asian | 0.0011% | 91,080 |
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.Ala1233=
- Coding
- c.3699T>C
- MANE Select
- NM_032217
- Type
- single nucleotide variant
- Location
- chr4:73121031 (GRCh38)
- Gene constraint
- LOEUF 0.118 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 53.73
- Residue 1233
- a UniProt-annotated variant site (in cags)
Similar variants
- ANKRD17 p.Ala1233Asp 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-ala1233 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown