ANKRD17 p.Arg2502Ter
c.7504C>T · rs1953365097 · VCV3254702
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Chopra-Amiel-Gordon syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 32 of 34 |
| Splicing | ||
| SpliceAI | Δ0.22 | donor loss, 30 bp away · masked 0 · deltas |
| Constraint at this position | ||
| Conservation | phyloP 4.3 | GERP -2.9, phastCons 1 |
| Overall | ||
| CADD | 39.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ANKRD17
- Protein
- p.Arg2502Ter
- Coding
- c.7504C>T
- MANE Select
- NM_032217
- dbSNP
- rs1953365097
- Type
- single nucleotide variant
- Location
- chr4:73077438 (GRCh38)
- Gene constraint
- LOEUF 0.118 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 53.73
- Residue 2502
- a UniProt-annotated variant site (in cags)
Similar variants
- ANKRD17 p.Arg2502Gln Likely benign ★ same residue
- ANKRD17 p.Arg1712His Uncertain significance ★★ ⚠ same condition
- ANKRD17 p.Asn1251Ser Uncertain significance ★★ ⚠ same condition
- ANKRD17 p.Asn2416Ser Uncertain significance ★★ ⚠ same condition
- ANKRD17 p.Thr1577Ile Uncertain significance ★★ ⚠ same condition
- ANKRD17 p.Thr2577Pro Uncertain significance ★★ ⚠ same condition
- ANKRD17 p.Arg1112Ter Likely pathogenic ★ same condition
- ANKRD17 p.Arg2434Gly Likely pathogenic ★ ⚠ same condition
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-arg2502ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown