ASMT c.910+8del
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 21.4%, afr) — too common for a highly-penetrant pathogenic allele
Conditions
1
ASMT-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +8 | near-intronic (+8 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.4 | GERP -4.2 |
| Non-coding constraint | — | not assessed · autosomes only, so chrX has no window · absence ≠ unconstrained |
| Overall | ||
| CADD | 0.574 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
21.4%
African / African-American · 16,056/74,968 alleles
Filtering AF
21.1%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 21%
Overall
13.1%
210,726/1,613,694 alleles · common
exomes 187,905/1,461,522 · genomes 22,821/152,172 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 21.4% | 5 |
| South Asian | 19.9% | 5 |
| Ashkenazi Jewishnot grpmax-eligible | 15.8% | 6 |
| Middle Eastern | 15.3% | 7 |
| Remaining individualsnot grpmax-eligible | 13.5% | 7 |
| Admixed American | 13.2% | 8 |
| European (non-Finnish) | 12.2% | 8 |
| Finnishnot grpmax-eligible | 11.3% | 9 |
| East Asian | 7.91% | 13 |
| Amishnot grpmax-eligible | 6.8% | 15 |
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
- ASMT
- Coding
- c.910+8del
- MANE Select
- NM_001171038
- dbSNP
- rs11346829
- Type
- Deletion
- Location
- chrX:1636568 (GRCh38)
- Structure
- AlphaFold pLDDT 95.55 · 2 PDB
Disease context
ASMT-related disorder
Similar variants
- ASMT p.Arg210= Likely benign same condition
- ASMT p.Asp122= Likely benign same condition
- ASMT p.Asp287= Benign same condition
- ASMT p.Trp190Arg Benign same condition
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/asmt-c-910-plus-8del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown