ADNP p.Arg306=
c.918A>T · rs2515588698 · VCV1766097
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0011%, sas)
Conditions
1
Inborn genetic diseases
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 3.5 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 10.17 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0011%
South Asian · 1/91,078 alleles
Overall
6.84e-05%
1/1,461,890 alleles · very rare
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.Arg306=
- Coding
- c.918A>T
- MANE Select
- NM_001282531
- dbSNP
- rs2515588698
- Type
- single nucleotide variant
- Location
- chr20:50893796 (GRCh38)
- Gene constraint
- LOEUF 0.106 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 57.07
Similar variants
- ADNP p.Arg306Gln Likely benign ★★ same residue
- ADNP p.Arg306Ter Pathogenic/Likely pathogenic ★★ same residue
- ADNP p.Ser738Ter Pathogenic ★★ same condition
- ADNP p.Trp446Ter Pathogenic ★★ same condition
- ADNP p.Arg264Gln Uncertain significance ★★ ⚠ same condition
- ADNP p.Arg296Gln Uncertain significance ★★ ⚠ same condition
- ADNP p.Asn331Tyr Uncertain significance ★★ ⚠ same condition
- ADNP p.Asn951Ser Uncertain significance ★★ ⚠ 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/adnp-p-arg306 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown