ARSL c.185+101A>G
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.85%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +101 | deep intronic (+101 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.2 | GERP -0.6 |
| Non-coding constraint | — | not assessed · autosomes only, so chrX has no window · absence ≠ unconstrained |
| Overall | ||
| CADD | 0.353 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.85%
European (non-Finnish) · 22,314/784,045 alleles
Filtering AF
2.81%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.8%
Overall
2.44%
26,054/1,068,177 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 2.85% | 35 |
| South Asian | 2.65% | 38 |
| Remaining individualsnot grpmax-eligible | 2.21% | 45 |
| Finnishnot grpmax-eligible | 1.84% | 54 |
| Middle Eastern | 1.84% | 54 |
| Amishnot grpmax-eligible | 1.17% | 86 |
| Ashkenazi Jewishnot grpmax-eligible | 1.14% | 88 |
| Admixed American | 0.491% | 204 |
| African / African-American | 0.341% | 293 |
| East Asian | 0.0161% | 6,200 |
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
- ARSL
- Coding
- c.185+101A>G
- MANE Select
- NM_000047
- dbSNP
- rs138325310
- Type
- single nucleotide variant
- Location
- chrX:2958173 (GRCh38)
- Structure
- AlphaFold pLDDT 92.57
Similar variants
- ARSL c.1289+1G>A Pathogenic/Likely pathogenic ★★ same type
- ARSL c.24-2A>G Likely pathogenic ★★ same type
- ARSL p.Arg111Cys Likely pathogenic ★★ same type
- ARSL p.Gly117Arg Pathogenic/Likely pathogenic ★★ same type
- ARSL p.Gly73Ser Likely pathogenic ★★ ⚠ same type
- ARSL p.Ala182Thr Uncertain significance ★★ ⚠ same type
- ARSL p.Ala251Val Uncertain significance ★★ ⚠ same type
- ARSL p.Ala45Val 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/arsl-c-185-plus-101a-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown