CAPRIN1 p.Gln653fs
c.1957_1958del · VCV4529640
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 17 of 19 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.62 | GERP -3.9, phastCons 0.037 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CAPRIN1
- Protein
- p.Gln653fs
- Coding
- c.1957_1958del
- MANE Select
- NM_005898
- Type
- Microsatellite
- Location
- chr11:34097249 (GRCh38)
- Gene constraint
- LOEUF 0.372 · pLI 1.00 · ClinGen HI 2/3 (gnomAD)
- Structure
- AlphaFold pLDDT 58.64 · 6 PDB
- Residue 653
- a UniProt-annotated variant site (in nedlaad; likely pathogenic); a UniProt-annotated variant site (in nedlaad; likely pathogenic; 50% decrease of transcript and protein levels in patient-derived cells compared to controls); the 'disordered' region
Similar variants
- CAPRIN1 p.Glu293fs Likely pathogenic ★ same type
- CAPRIN1 p.Thr559fs 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/caprin1-p-gln653fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown