BAP1 Chromosome 3

BRCA1 associated deubiquitinase 1
611 variants 611 Health Risk

Upload your DNA to see your personal genotypes for variants in BAP1.

What This Gene Does
This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]
Gene Info
Gene Group
Ubiquitin C-terminal hydrolases
Locus Type
gene with protein product
Location
3p21.1
Ensembl
ENSG00000163930
Associated Conditions (25)
Hereditary cancer-predisposing syndrome
BAP1-related tumor predisposition syndrome
Melanoma
uveal
susceptibility to
2
Kury-Isidor syndrome
Hereditary cancer
BAP1-related disorder
Uveal melanoma
BAP1-associated neurodevelopmental disorder
Neurodevelopmental disorder
See cases
Medulloblastoma
Neoplasm
Malignant tumor of esophagus
Hepatocellular carcinoma
Ewing sarcoma
Ganglioglioma
Clear cell carcinoma of kidney
+5 more conditions
Key Variants
RS1033651300
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1035262201
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
Health Risk
RS1040041070
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1041287605
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
Health Risk
RS1060503728
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060503733
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060503737
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
Health Risk
RS1060503739
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
Health Risk
RS1060503748
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
Health Risk
RS1060503750
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1064795208
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
Health Risk
RS112194987
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (611)
RSID Category Clinical Significance Conditions
RS543305514 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS546888007 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS548946316 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS551399575 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related disorder
RS556046793 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS559555349 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS565400314 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS572063023 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS572089064 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS576176888 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS576538858 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer
RS745959970 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS746045584 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS746308215 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS746925345 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS747109385 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS747712653 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS748022925 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS748853790 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS748928044 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS749456076 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS749460317 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS749728488 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS750343039 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS751399960 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Melanoma
RS752302472 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS752536342 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Ewing sarcoma
RS752703914 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752793866 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS752864098 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS753081347 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS753264498 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS753329341 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS753460994 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS754576458 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS754740693 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS755664216 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS755719248 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS756153541 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS756443059 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS756450018 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS756472919 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related disorder
RS758136052 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS758585834 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS758996824 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS759024400 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS759337168 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Kury-Isidor syndrome
RS759423683 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS759448397 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS759622893 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
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