BCAR4
Chr 16breast cancer anti-estrogen resistance 4
BCAR4 encodes a long non-coding RNA that regulates transcription factors involved in hedgehog signaling pathways. Based on the available information, this gene has been studied primarily in the context of breast cancer biology rather than pediatric neurological disorders. No established Mendelian inheritance patterns or pediatric neurogenetic diseases associated with BCAR4 mutations are described in the provided data.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
29 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 14 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 12 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 27 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BCAR4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools