ASNS p.Leu265=
c.793T>C · rs2484656583 · VCV2105812
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 6.84e-05%)
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 0.11 | GERP -3, phastCons 0.091 |
| Overall | ||
| CADD | 7.269 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.84e-05%
Overall
6.84e-05%
1/1,461,850 alleles · very rare
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
- ASNS
- Protein
- p.Leu265=
- Coding
- c.793T>C
- MANE Select
- NM_001673
- dbSNP
- rs2484656583
- Type
- single nucleotide variant
- Location
- chr7:97858388 (GRCh38)
- Gene constraint
- LOEUF 0.745 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.36 · 3 PDB
- Residue 265
- the asparagine synthetase domain; an α-helix
Similar variants
- ASNS c.1030+1G>A Likely pathogenic ★★ same type
- ASNS c.1138-1G>A Likely pathogenic ★★ same type
- ASNS c.1239-2A>T Likely pathogenic ★★ same type
- ASNS c.1320+1G>C Likely pathogenic ★★ same type
- ASNS c.1320+1G>T Likely pathogenic ★★ same type
- ASNS c.1321-1G>A Likely pathogenic ★★ same type
- ASNS c.1476+1G>A Pathogenic ★★ same type
- ASNS c.1476+2T>C 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/asns-p-leu265 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown