ADNP p.Ile287=
c.861C>T · rs749666251 · VCV2869515
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00934%, 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 1.1 | GERP -3.3, phastCons 0.99 |
| Overall | ||
| CADD | 8.336 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00934%
African / African-American · 7/74,916 alleles
Filtering AF
0.00437%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00309%
Overall
0.00149%
24/1,614,074 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00934% | 10,702 |
| Admixed American | 0.00167% | 60,004 |
| European (non-Finnish) | 0.00136% | 73,753 |
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
- ADNP
- Protein
- p.Ile287=
- Coding
- c.861C>T
- MANE Select
- NM_001282531
- dbSNP
- rs749666251
- Type
- single nucleotide variant
- Location
- chr20:50893853 (GRCh38)
- Gene constraint
- LOEUF 0.106 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 57.07
Similar variants
- ADNP p.Arg173Ter Pathogenic ★★ same type
- ADNP p.Arg216Ter Pathogenic ★★ same type
- ADNP p.Arg225Ter Pathogenic/Likely pathogenic ★★ same type
- ADNP p.Arg306Ter Pathogenic/Likely pathogenic ★★ same type
- ADNP p.Arg730Ter Pathogenic/Likely pathogenic ★★ same type
- ADNP p.Ser738Ter Pathogenic ★★ same type
- ADNP p.Trp446Ter Pathogenic ★★ same type
- ADNP p.Tyr172Ter Likely pathogenic ★★ 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/adnp-p-ile287 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown