ANKRD17 p.Pro2374=
c.7122G>C · VCV3904788
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.201%, 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 -0.32 | GERP -4, phastCons 0.4 |
| Overall | ||
| CADD | 1.991 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.201%
European (non-Finnish) · 2,376/1,179,990 alleles
Filtering AF
0.195%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.192%
Overall
0.167%
2,688/1,614,010 alleles · rare
exomes 2,498/1,461,870 · genomes 190/152,140 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.201% | 497 |
| Remaining individualsnot grpmax-eligible | 0.179% | 558 |
| Finnishnot grpmax-eligible | 0.136% | 736 |
| Admixed American | 0.09% | 1,111 |
| African / African-American | 0.0413% | 2,419 |
| South Asian | 0.0296% | 3,373 |
| East Asian | 0.00223% | 44,872 |
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.Pro2374=
- Coding
- c.7122G>C
- MANE Select
- NM_032217
- Type
- single nucleotide variant
- Location
- chr4:73085286 (GRCh38)
- Gene constraint
- LOEUF 0.118 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 53.73
- Residue 2374
- a UniProt-annotated variant site (in cags)
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-pro2374 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown