ANKRD17 p.Pro30=
c.90C>T · VCV4281177
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00816%, sas)
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 2.8 | GERP -1.6, phastCons 1 |
| Overall | ||
| CADD | 11.37 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00816%
South Asian · 6/73,488 alleles
Filtering AF
0.00353%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00242%
Overall
0.00089%
13/1,460,964 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00816% | 12,248 |
| Remaining individualsnot grpmax-eligible | 0.00354% | 28,277 |
| Admixed American | 0.00265% | 37,712 |
| European (non-Finnish) | 0.000358% | 279,555 |
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.Pro30=
- Coding
- c.90C>T
- MANE Select
- NM_032217
- Type
- single nucleotide variant
- Location
- chr4:73258579 (GRCh38)
- Gene constraint
- LOEUF 0.118 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 53.73
- Residue 30
- the 'disordered' region
Similar variants
- 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
- ANKRD17 p.Gln907Pro 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-pro30 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown