ADAM23 p.Asp588=
c.1764C>T · rs142870912 · VCV741391
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.175%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>G here scores Δ0.23 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.46 | GERP -1.2, phastCons 1 |
| Overall | ||
| CADD | 12.16 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.175%
African / African-American · 131/74,664 alleles
Filtering AF
0.151%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.142%
Overall
0.00996%
160/1,607,092 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.175% | 570 |
| Remaining individualsnot grpmax-eligible | 0.00803% | 12,450 |
| East Asian | 0.00224% | 44,710 |
| European (non-Finnish) | 0.00187% | 53,478 |
| Admixed American | 0.00169% | 59,256 |
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
- ADAM23
- Protein
- p.Asp588=
- Coding
- c.1764C>T
- MANE Select
- NM_003812
- dbSNP
- rs142870912
- Type
- single nucleotide variant
- Location
- chr2:206587351 (GRCh38)
- Gene constraint
- LOEUF 0.416 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.38
- Residue 588
- the disintegrin domain
Similar variants
- ADAM23 p.Asp588Gly Uncertain significance ★ ⚠ same residue
- ADAM23 p.Ile118Met Likely benign ★★ ⚠ same type
- ADAM23 p.Phe158= Likely benign ★★ same type
- ADAM23 p.Pro780Ala Benign/Likely benign ★★ same type
- ADAM23 p.Ser125Ala Likely benign ★★ same type
- ADAM23 p.Ser693= Benign ★★ same type
- ADAM23 c.1346-1G>C Uncertain significance ★ same type
- ADAM23 p.Ala145Gly 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/adam23-p-asp588 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown