BCOR p.Ser158fs
c.472del · VCV3480281
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Inborn genetic diseases
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 haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 4 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.3 | GERP 0.43, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BCOR
- Protein
- p.Ser158fs
- Coding
- c.472del
- MANE Select
- NM_001123385
- Type
- Deletion
- Location
- chrX:40074874 (GRCh38)
- Structure
- AlphaFold pLDDT 39.82 · 5 PDB
Similar variants
- BCOR p.Arg810Ter Pathogenic ★★ same condition
- BCOR p.Leu1296fs Pathogenic ★★ same condition
- BCOR p.Ala1314Asp Uncertain significance ★★ ⚠ same condition
- BCOR p.Ala147Thr Uncertain significance ★★ ⚠ same condition
- BCOR p.Ala165Pro Uncertain significance ★★ ⚠ same condition
- BCOR p.Arg1231Trp Uncertain significance ★★ ⚠ same condition
- BCOR p.Arg763Trp Uncertain significance ★★ ⚠ same condition
- BCOR p.Asn193Ser Uncertain significance ★★ ⚠ same condition
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/bcor-p-ser158fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown