ASCC1 p.Ala138fs
c.411del · VCV3764612
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
ASCC1-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.29 | GERP -3.7, phastCons 0.044 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ASCC1
- Protein
- p.Ala138fs
- Coding
- c.411del
- MANE Select
- NM_001198800
- Type
- Deletion
- Location
- chr10:72196889 (GRCh38)
- Gene constraint
- LOEUF 1.002 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.70 · 1 PDB
- Residue 138
- the kh domain
Disease context
ASCC1-related disorder
Similar variants
- ASCC1 p.Pro216_Leu217insTer Likely pathogenic ★ same condition
- ASCC1 c.626+1G>A Pathogenic/Likely pathogenic ★★ same condition
- ASCC1 p.Glu53fs Pathogenic/Likely pathogenic ★★ same condition
- ASCC1 p.Glu155fs Pathogenic ★ same type
- ASCC1 p.Phe127fs Likely pathogenic ★ same type
- ASCC1 c.112+235_112+237del Benign ★ same type
- ASCC1 c.958-5534del Likely benign ★ same type
- ASCC1 c.-33-234del 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/ascc1-p-ala138fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown