ADAM9 p.Phe284=
c.852C>T · rs143007948 · VCV1103657
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0361%, 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 -0.31 | GERP -0.72, phastCons 0.36 |
| Overall | ||
| CADD | 11.3 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0361%
African / African-American · 27/74,810 alleles
Filtering AF
0.0254%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0219%
Overall
0.00843%
136/1,613,326 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0361% | 2,771 |
| European (non-Finnish) | 0.00865% | 11,567 |
| Admixed American | 0.005% | 19,988 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,819 |
| South Asian | 0.0011% | 90,976 |
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
- ADAM9
- Protein
- p.Phe284=
- Coding
- c.852C>T
- MANE Select
- NM_003816
- dbSNP
- rs143007948
- Type
- single nucleotide variant
- Location
- chr8:39023263 (GRCh38)
- Gene constraint
- LOEUF 0.575 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 76.14
- Residue 284
- the peptidase m12b domain
Similar variants
- ADAM9 p.Tyr213Ter Pathogenic/Likely pathogenic ★★ same type
- ADAM9 c.195+5G>A Uncertain significance ★★ same type
- ADAM9 c.997-3C>G Uncertain significance ★★ same type
- ADAM9 p.Ala145Glu Uncertain significance ★★ ⚠ same type
- ADAM9 p.Ala424Thr Uncertain significance ★★ ⚠ same type
- ADAM9 p.Ala510Thr Uncertain significance ★★ ⚠ same type
- ADAM9 p.Ala534Pro Uncertain significance ★★ ⚠ same type
- ADAM9 p.Arg117Trp 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/adam9-p-phe284 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown