BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE In the present study we report the identification of a novel germline BAP1 mutation, c.1777C>T, which produces a truncated BAP1 protein product and segregates with cancer. 26774355 2016
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0040136
Disease:
Thyroid Neoplasm
0.010 GeneticVariation BEFREE In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer. 26774355 2016
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer. 26774355 2016
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0549473
Disease:
Thyroid carcinoma
0.010 GeneticVariation BEFREE In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer. 26774355 2016
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0007115
Disease:
Malignant neoplasm of thyroid
0.010 GeneticVariation BEFREE In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer. 26774355 2016
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE In the present study we report the identification of a novel germline BAP1 mutation, c.1777C>T, which produces a truncated BAP1 protein product and segregates with cancer. 26774355 2016
dbSNP: rs375129361
rs375129361
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0007134
Disease:
Renal Cell Carcinoma
0.010 GeneticVariation BEFREE By combining whole-exome sequencing and tumor profiling in a family prone to cases of RCC, we identified a germline BAP1 mutation c.277A>G (p.Thr93Ala) as the probable genetic basis of RCC predisposition. 23684012 2013
dbSNP: rs387906849
rs387906849
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0220633
Disease:
Uveal melanoma
0.010 GeneticVariation BEFREE Of the 53 UM patients studied, a single patient was identified with a germline BAP1 truncating mutation, c. 799 C→T (p.Q267X), which segregated in several family members and was associated with UM and other cancers. 21941004 2011
dbSNP: rs776240891
rs776240891
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR A BAP1 Mutation-specific MicroRNA Signature Predicts Clinical Outcomes in Clear Cell Renal Cell Carcinoma Patients with Wild-type BAP1. 28900502 2017
dbSNP: rs878854741
rs878854741
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature. 28793149 2017
dbSNP: rs1553645164
rs1553645164
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma. 27181379 2016
dbSNP: rs1559586374
rs1559586374
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
A 0.700 CausalMutation CLINVAR Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer. 26719535 2016
dbSNP: rs869025212
rs869025212
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer. 26719535 2016
dbSNP: rs869025212
rs869025212
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. 26096145 2016
dbSNP: rs1553644659
rs1553644659
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
A 0.700 CausalMutation CLINVAR Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations. 25974357 2015
dbSNP: rs1553645720
rs1553645720
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
A 0.700 CausalMutation CLINVAR Multiple Cutaneous Melanomas and Clinically Atypical Moles in a Patient With a Novel Germline BAP1 Mutation. 26154183 2015
dbSNP: rs1553645809
rs1553645809
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
CA 0.700 CausalMutation CLINVAR Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations. 25974357 2015
dbSNP: rs776240891
rs776240891
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Pan-cancer network analysis identifies combinations of rare somatic mutations across pathways and protein complexes. 25501392 2015
dbSNP: rs869025212
rs869025212
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0007134
Disease:
Renal Cell Carcinoma
A 0.700 CausalMutation CLINVAR Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. 25687217 2015
dbSNP: rs869025212
rs869025212
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
A 0.700 CausalMutation CLINVAR Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. 25687217 2015
dbSNP: rs869025212
rs869025212
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s. 26683624 2015
dbSNP: rs869025212
rs869025212
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C4721806
Disease:
Carcinoma, Basal Cell
A 0.700 CausalMutation CLINVAR Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. 25687217 2015
dbSNP: rs869025212
rs869025212
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. 25687217 2015
dbSNP: rs869025212
rs869025212
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0220633
Disease:
Uveal melanoma
A 0.700 CausalMutation CLINVAR Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. 25687217 2015
dbSNP: rs869025212
rs869025212
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0345967
Disease:
Malignant mesothelioma
A 0.700 CausalMutation CLINVAR Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. 25687217 2015