ALPL c.792+10del
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +10 | near-intronic (+10 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.36 | GERP -2.1 |
| Non-coding constraint | Z 3.14 | 1 kb window · o/e 0.78 · regional · uncalibrated |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ALPL
- Coding
- c.792+10del
- MANE Select
- NM_000478
- dbSNP
- rs2148172047
- Type
- Deletion
- Location
- chr1:21568257 (GRCh38)
- Gene constraint
- LOEUF 0.987 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.74 · 5 PDB
Similar variants
- ALPL c.793-30_793-11del Pathogenic/Likely pathogenic ★★ same type
- ALPL p.Ala492fs Pathogenic/Likely pathogenic ★★ same type
- ALPL p.Arg138fs Pathogenic ★★ same type
- ALPL p.Arg272fs Pathogenic/Likely pathogenic ★★ same type
- ALPL p.Asn16fs Pathogenic ★★ same type
- ALPL p.Asn190del Pathogenic/Likely pathogenic ★★ same type
- ALPL p.Asn302fs Pathogenic ★★ same type
- ALPL p.Gln143fs 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/alpl-c-792-plus-10del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown