BACC1

Chr 17

BPTF associated chromatin complex component 1

Also known as: BAP18, C17orf49, HEPIS

Enables identical protein binding activity. Predicted to be involved in chromatin organization. Located in cytosol and nucleoplasm. Part of MLL1 complex and NURF complex. [provided by Alliance of Genome Resources, Jul 2025]

26
ClinVar variants
19
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryBACC1
📋
ClinVar Variants
19 Pathogenic / Likely Pathogenic· 7 VUS of 26 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

26 submitted variants in ClinVar

Classification Summary

Pathogenic18
Likely Pathogenic1
VUS7
18
Pathogenic
1
Likely Pathogenic
7
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
18
Likely Pathogenic
1
VUS
7
Likely Benign
0
Benign
0
Total26

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

BACC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →