ADSS1 p.Thr72=
c.216G>A · rs74089207 · VCV707934
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.59%, 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 -20 | GERP -18 |
| Overall | ||
| CADD | 0.008 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.59%
African / African-American · 1,193/75,066 alleles
Filtering AF
1.51%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.48%
Overall
0.0828%
1,336/1,613,518 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.59% | 63 |
| Remaining individualsnot grpmax-eligible | 0.0912% | 1,096 |
| Admixed American | 0.0517% | 1,935 |
| Middle Eastern | 0.0165% | 6,060 |
| Finnishnot grpmax-eligible | 0.00941% | 10,631 |
| South Asian | 0.00549% | 18,213 |
| European (non-Finnish) | 0.00365% | 27,435 |
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
- ADSS1
- Protein
- p.Thr72=
- Coding
- c.216G>A
- MANE Select
- NM_152328
- dbSNP
- rs74089207
- Type
- single nucleotide variant
- Location
- chr14:104735043 (GRCh38)
- Gene constraint
- LOEUF 1.245 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.10
- Residue 72
- a binding site
Similar variants
- ADSS1 p.Thr72Met Uncertain significance ★★ ⚠ same residue
- ADSS1 c.949-2A>G Likely pathogenic ★★ same type
- ADSS1 p.Asp261Asn Pathogenic/Likely pathogenic ★★ same type
- ADSS1 p.Gln323Ter Pathogenic/Likely pathogenic ★★ same type
- ADSS1 c.193-4823C>A Uncertain significance ★★ same type
- ADSS1 c.193-4836G>A Uncertain significance ★★ same type
- ADSS1 c.193-4838G>A Uncertain significance ★★ same type
- ADSS1 c.193-4866C>T 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/adss1-p-thr72 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown