ADAM9 p.Ser9=
c.27G>A · rs373033544 · VCV2880457
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00401%, 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 -5.2 | GERP -3.2 |
| Overall | ||
| CADD | 1.401 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00401%
African / African-American · 3/74,842 alleles
Filtering AF
0.00106%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000495%
Overall
0.000311%
5/1,607,338 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00401% | 24,947 |
| Admixed American | 0.00167% | 59,978 |
| South Asian | 0.0011% | 91,032 |
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.Ser9=
- Coding
- c.27G>A
- MANE Select
- NM_003816
- dbSNP
- rs373033544
- Type
- single nucleotide variant
- Location
- chr8:38997090 (GRCh38)
- Gene constraint
- LOEUF 0.575 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 76.14
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-ser9 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown