ADSS1 p.Leu347=
c.1041A>G · rs147370332 · VCV714552
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0936%, nfe)
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 -1.4 | GERP -4.2 |
| Overall | ||
| CADD | 1.82 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0936%
European (non-Finnish) · 1,104/1,179,990 alleles
Filtering AF
0.0889%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0871%
Overall
0.0718%
1,158/1,612,284 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0936% | 1,069 |
| Remaining individualsnot grpmax-eligible | 0.0464% | 2,155 |
| Admixed American | 0.025% | 4,001 |
| African / African-American | 0.012% | 8,338 |
| Finnishnot grpmax-eligible | 0.00161% | 62,210 |
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.Leu347=
- Coding
- c.1041A>G
- MANE Select
- NM_152328
- dbSNP
- rs147370332
- Type
- single nucleotide variant
- Location
- chr14:104743159 (GRCh38)
- Gene constraint
- LOEUF 1.245 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.10
Similar variants
- 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
- ADSS1 c.193-4916C>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-leu347 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown