ANKRD17 p.Ser1975=
c.5925A>G · VCV4534084
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.346%, 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 1.9 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 9.576 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.346%
African / African-American · 260/75,052 alleles
Filtering AF
0.312%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.298%
Overall
0.0195%
314/1,614,184 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.346% | 289 |
| Admixed American | 0.0517% | 1,936 |
| Remaining individualsnot grpmax-eligible | 0.032% | 3,125 |
| South Asian | 0.0011% | 91,086 |
| European (non-Finnish) | 0.000169% | 590,012 |
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.Ser1975=
- Coding
- c.5925A>G
- MANE Select
- NM_032217
- Type
- single nucleotide variant
- Location
- chr4:73091703 (GRCh38)
- Gene constraint
- LOEUF 0.118 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 53.73
- Residue 1975
- the 'disordered' region; 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-ser1975 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown