CLUAP1 c.134+16del
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,394,322)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +16 | near-intronic (+16 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.28 | GERP -3.3 |
| Non-coding constraint | Z -1.68 | 1 kb window · o/e 1.12 · regional · uncalibrated |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,394,322). 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
- CLUAP1
- Coding
- c.134+16del
- MANE Select
- NM_015041
- dbSNP
- rs2151041208
- Type
- Deletion
- Location
- chr16:3504845 (GRCh38)
- Gene constraint
- LOEUF 1.23 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.02
Similar variants
- CLUAP1 c.14_22+16del Uncertain significance ★ same type
- CLUAP1 p.Arg141fs Uncertain significance ★ same type
- CLUAP1 p.Glu380_Asp382del Uncertain significance ★ same type
- CLUAP1 p.Leu104_Tyr105insTer Uncertain significance ★ same type
- CLUAP1 p.Met1fs Uncertain significance ★ same type
- CLUAP1 c.22+13del Benign ★ same type
- CLUAP1 c.579+12_579+13del Likely benign ★ same type
- CLUAP1 c.579+13del Likely 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/cluap1-c-134-plus-16del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown