ADAMTS13 p.Phe751=
c.2253C>T · rs888363166 · VCV2972927
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00669%, sas)
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>A here scores Δ0.31 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -8.1 | GERP -3.5 |
| Overall | ||
| CADD | 0.709 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00669%
South Asian · 6/89,650 alleles
Filtering AF
0.0029%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00198%
Overall
0.00163%
26/1,597,860 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00669% | 14,942 |
| Remaining individualsnot grpmax-eligible | 0.00483% | 20,690 |
| African / African-American | 0.00401% | 24,947 |
| East Asian | 0.00224% | 44,630 |
| Admixed American | 0.00168% | 59,380 |
| European (non-Finnish) | 0.00102% | 98,131 |
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
- ADAMTS13
- Protein
- p.Phe751=
- Coding
- c.2253C>T
- MANE Select
- NM_139027
- dbSNP
- rs888363166
- Type
- single nucleotide variant
- Location
- chr9:133443394 (GRCh38)
- Gene constraint
- LOEUF 0.917 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 76.00 · 5 PDB
- Residue 751
- the tsp type-1 3 domain
Similar variants
- ADAMTS13 c.1705+1G>A Likely pathogenic ★★ same type
- ADAMTS13 c.3044+1G>A Pathogenic/Likely pathogenic ★★ same type
- ADAMTS13 c.330+1G>A Pathogenic/Likely pathogenic ★★ same type
- ADAMTS13 p.Ala596Val Pathogenic ★★ same type
- ADAMTS13 p.Ala690Thr Likely pathogenic ★★ ⚠ same type
- ADAMTS13 p.Arg102Cys Pathogenic/Likely pathogenic ★★ same type
- ADAMTS13 p.Arg102His Likely pathogenic ★★ ⚠ same type
- ADAMTS13 p.Arg1060Trp Pathogenic/Likely pathogenic ★★ ⚠ 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/adamts13-p-phe751 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown