ADAMTS14 p.Asp172=
c.516C>T · rs144956824 · VCV786164
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.83%, 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 -3.4 | GERP -3.9 |
| Overall | ||
| CADD | 3.875 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.83%
African / African-American · 1,376/75,024 alleles
Filtering AF
1.75%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.72%
Overall
0.123%
1,977/1,611,926 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.83% | 55 |
| Remaining individualsnot grpmax-eligible | 0.117% | 856 |
| Middle Eastern | 0.116% | 863 |
| Admixed American | 0.112% | 896 |
| South Asian | 0.0769% | 1,301 |
| European (non-Finnish) | 0.0324% | 3,089 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,600 |
| Finnishnot grpmax-eligible | 0.00161% | 61,996 |
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
- ADAMTS14
- Protein
- p.Asp172=
- Coding
- c.516C>T
- MANE Select
- NM_080722
- dbSNP
- rs144956824
- Type
- single nucleotide variant
- Location
- chr10:70674989 (GRCh38)
- Gene constraint
- LOEUF 0.966 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.22
Similar variants
- ADAMTS14 p.Gly532Ser Uncertain significance ★★ ⚠ same type
- ADAMTS14 c.870+3G>A Benign ★★ same type
- ADAMTS14 p.Glu1049Gly Benign ★★ same type
- ADAMTS14 p.Gly245= Benign ★★ same type
- ADAMTS14 c.871-2A>G Uncertain significance ★ same type
- ADAMTS14 p.Ala1130Asp Uncertain significance ★ ⚠ same type
- ADAMTS14 p.Ala167Ser Uncertain significance ★ ⚠ same type
- ADAMTS14 p.Ala175Val Conflicting classifications of pathogenicity ★ ⚠ 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/adamts14-p-asp172 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown