BCAP31 p.Phe52del
c.150CTT[1] · rs2148383831 · VCV1310586
Uncertain significance
Single submitter
Classification
Uncertain significance
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 | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.2 | GERP -1.4, phastCons 1 |
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
- BCAP31
- Protein
- p.Phe52del
- Coding
- c.150CTT[1]
- MANE Select
- NM_001256447
- dbSNP
- rs2148383831
- Type
- Microsatellite
- Location
- chrX:153720910 (GRCh38)
- Structure
- AlphaFold pLDDT 84.74 · 3 PDB
Similar variants
- BCAP31 p.Phe52Ser Uncertain significance ★★ ⚠ same residue
- BCAP31 p.Leu122fs Pathogenic ★★ same type
- BCAP31 p.Tyr104fs Pathogenic ★ same type
- BCAP31 p.Asp75del Uncertain significance ★ same type
- BCAP31 p.Glu245fs Uncertain significance ★ same type
- BCAP31 c.478-276GCCAGGG[2] 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/bcap31-p-phe52del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown