BAP1 Chromosome 3

BRCA1 associated deubiquitinase 1
611 variants 611 Health Risk

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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
RS1705291920 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1705320930 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS199608453 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, BAP1-related disorder
RS201203425 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, BAP1-related disorder
RS201844078 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Medulloblastoma
RS2153226175 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153226205 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226220 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153226279 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226476 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226566 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153226665 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153226819 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226821 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226845 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153226883 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226993 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153227205 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153227249 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153227788 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153227828 Health Risk Conflicting classifications of pathogenicity Kury-Isidor syndrome, Neurodevelopmental disorder, BAP1-related tumor predisposition syndrome
RS2153227888 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153227983 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228293 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228345 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153228352 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153228535 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, BAP1-related tumor predisposition syndrome, Neurodevelopmental disorder
RS2153228637 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2471319265 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2471330251 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2471357949 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS367867008 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS369065146 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS369259771 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS369744075 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS370004702 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related disorder
RS371601284 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS372213315 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS372586694 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS372987719 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS373809972 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS373910684 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS374746213 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, BAP1-related disorder
RS374877744 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS374920141 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS374928824 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, See cases
RS375129361 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Neoplasm
RS376519545 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, BAP1-related disorder
RS527433244 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS535695655 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Malignant tumor of esophagus
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