AHSG p.Leu309=
c.925T>C · rs35799453 · VCV3037333
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.2%, nfe)
Conditions
1
AHSG-related disorder
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 -1.8 | GERP -4.5 |
| Overall | ||
| CADD | 0.181 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.2%
European (non-Finnish) · 25,905/1,180,020 alleles
Filtering AF
2.17%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.16%
Overall
1.86%
29,948/1,614,132 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 2.2% | 46 |
| Admixed American | 2.02% | 50 |
| Remaining individualsnot grpmax-eligible | 1.75% | 57 |
| Middle Eastern | 1.63% | 61 |
| Ashkenazi Jewishnot grpmax-eligible | 1.26% | 79 |
| South Asian | 0.649% | 154 |
| Finnishnot grpmax-eligible | 0.604% | 165 |
| African / African-American | 0.384% | 261 |
| East Asian | 0.00223% | 44,864 |
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
- AHSG
- Protein
- p.Leu309=
- Coding
- c.925T>C
- MANE Select
- NM_001622
- dbSNP
- rs35799453
- Type
- single nucleotide variant
- Location
- chr3:186620751 (GRCh38)
- Gene constraint
- LOEUF 1.042 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.59
- Residue 309
- a disulfide bond
Disease context
AHSG-related disorder
Similar variants
- AHSG c.214-903G>A Benign same condition
- AHSG c.*7C>A Benign same condition
- AHSG p.Leu13= Benign same condition
- AHSG p.Val342Met Uncertain significance ★★ ⚠ same type
- AHSG p.Ala170= Benign/Likely benign ★★ same type
- AHSG p.Arg317Cys Benign ★★ ⚠ same type
- AHSG p.Met248Thr Benign ★★ same type
- AHSG p.Ser256Thr Benign ★★ 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/ahsg-p-leu309 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown