BCOR p.Pro1091Ter
c.3267_3270dup · rs1555915852 · VCV499579
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.9 | GERP -1.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- BCOR
- Protein
- p.Pro1091Ter
- Coding
- c.3267_3270dup
- MANE Select
- NM_001123385
- dbSNP
- rs1555915852
- Type
- Duplication
- Location
- chrX:40064567 (GRCh38)
- Structure
- AlphaFold pLDDT 39.82 · 5 PDB
- Residue 1091
- the 'disordered' region
Similar variants
- BCOR p.Leu1646fs Pathogenic/Likely pathogenic ★★ same type
- BCOR p.Ala1037fs Pathogenic ★ same type
- BCOR p.Ala1224fs Pathogenic ★ same type
- BCOR p.Ala275fs Pathogenic ★ same type
- BCOR p.Asn87fs Likely pathogenic ★ same type
- BCOR p.Gln1306fs Pathogenic ★ same type
- BCOR p.Gly1622fs Pathogenic ★ same type
- BCOR p.Leu1130fs 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/bcor-p-pro1091ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown