rs1057519902, H3-3A

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.740 GeneticVariation BEFREE Histopathologically, the four G34R-mutant cases included three glioblastomas and one astroblastoma. 28447171 2017
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.740 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.740 GeneticVariation BEFREE H3F3A mutations are seen in ∼30% of pediatric glioblastoma (GBMs) and involve either the lysine residue at position 27 (K27M) or glycine at position 34 (G34R/V). 23414300 2013
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.740 GeneticVariation BEFREE Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1). 23907119 2013
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.740 GeneticVariation BEFREE Exon sequencing has identified a mutation in K27M of the histone H3.3 gene (H3F3A K27M and G34R/V) in about 20% of pediatric glioblastomas, but it remains to be seen whether these mutations can be considered specific for pediatric diffuse high-grade astrocytomas or also occur in other pediatric brain tumors. 23429371 2013
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE These results indicate that G34R-mutant tumors are likely to show extensive infiltration and alterations in global histone trimethylation might also play an important role in G34R mutant tumors. 28447171 2017
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.020 GeneticVariation BEFREE Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1). 23907119 2013
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.020 GeneticVariation BEFREE H3F3A mutations are seen in ∼30% of pediatric glioblastoma (GBMs) and involve either the lysine residue at position 27 (K27M) or glycine at position 34 (G34R/V). 23414300 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation. 22286061 2012
High grade glioma
CUI: C4722099
Disease: High grade glioma
0.010 GeneticVariation BEFREE Extraneural Metastases From a High-Grade Glioma (HGG) With an H3F3A G34R Mutation. 31139567 2019
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.010 GeneticVariation BEFREE We report the case of a 17-year-old female with an H3F3A G34R mutated infiltrative glioma who developed painful osseous metastases to her pelvis and spine within 3 months of clinical presentation. 31139567 2019
Malignant Glioma
CUI: C0555198
Disease: Malignant Glioma
0.010 GeneticVariation BEFREE Extraneural Metastases From a High-Grade Glioma (HGG) With an H3F3A G34R Mutation. 31139567 2019
Neoplasms, Neuroepithelial
CUI: C0206715
Disease: Neoplasms, Neuroepithelial
0.010 GeneticVariation BEFREE H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components. 31109382 2019
Glioma
CUI: C0017638
Disease: Glioma
0.010 GeneticVariation BEFREE We report the case of a 17-year-old female with an H3F3A G34R mutated infiltrative glioma who developed painful osseous metastases to her pelvis and spine within 3 months of clinical presentation. 31139567 2019
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.010 GeneticVariation BEFREE We report the case of a 17-year-old female with an H3F3A G34R mutated infiltrative glioma who developed painful osseous metastases to her pelvis and spine within 3 months of clinical presentation. 31139567 2019
Giant Cell Tumor of Bone
CUI: C0206638
Disease: Giant Cell Tumor of Bone
0.010 GeneticVariation BEFREE Detection of H3F3A p.G35W and p.G35R in giant cell tumor of bone by Allele Specific Locked Nucleic Acid quantitative PCR (ASLNAqPCR). 29254795 2018
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
0.010 GeneticVariation BEFREE Notably an additional 2 previously reported osteosarcomas with a p.G34R mutation were not immunoreactive for the antibody. 28505000 2017
Astroblastoma
CUI: C0334587
Disease: Astroblastoma
0.010 GeneticVariation BEFREE Histopathologically, the four G34R-mutant cases included three glioblastomas and one astroblastoma. 28447171 2017
Microvascular Angina
CUI: C0206064
Disease: Microvascular Angina
0.010 GeneticVariation BEFREE Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation. 22286061 2012