ADAM32 p.Val62=
c.186G>A · rs201047294 · VCV2658563
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0847%, mid)
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 0.033 | GERP -4.2, phastCons 0.45 |
| Overall | ||
| CADD | 0.987 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0847%
Middle Eastern · 5/5,900 alleles
Filtering AF
0.0333%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0216%
Overall
0.00594%
91/1,531,782 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0847% | 1,180 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0287% | 3,481 |
| Remaining individualsnot grpmax-eligible | 0.0118% | 8,468 |
| Admixed American | 0.00851% | 11,756 |
| European (non-Finnish) | 0.00546% | 18,308 |
| African / African-American | 0.00419% | 23,894 |
| South Asian | 0.00252% | 39,726 |
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
- ADAM32
- Protein
- p.Val62=
- Coding
- c.186G>A
- MANE Select
- NM_145004
- dbSNP
- rs201047294
- Type
- single nucleotide variant
- Location
- chr8:39136704 (GRCh38)
- Gene constraint
- LOEUF 1.041 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.71
Similar variants
- ADAM32 p.Arg298His Likely benign ★★ ⚠ same type
- ADAM32 p.Ala154Thr Uncertain significance ★ ⚠ same type
- ADAM32 p.Ala179Ser Uncertain significance ★ ⚠ same type
- ADAM32 p.Ala621Val Uncertain significance ★ ⚠ same type
- ADAM32 p.Ala699Thr Uncertain significance ★ ⚠ same type
- ADAM32 p.Arg284His Uncertain significance ★ ⚠ same type
- ADAM32 p.Arg501Cys Uncertain significance ★ ⚠ same type
- ADAM32 p.Arg501His 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/adam32-p-val62 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown