Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519903
rs1057519903
CUI: C0017638
Disease: Glioma
Glioma
0.050 GeneticVariation BEFREE No significant prognostic value was observed for grade, even after regrading H3F3A K27M-mutated midline glioma as grade IV (WHO 2016). 31419298

2020

dbSNP: rs1057519903
rs1057519903
CUI: C0017638
Disease: Glioma
Glioma
0.050 GeneticVariation BEFREE Whereas both H3F3A K27M and BRAF V600E have been reported as poor prognostic markers in pediatric glioma, our case, along with several other reported cases, suggests that the coexistence of these two mutations might not indicate poor prognosis. 31254135

2019

dbSNP: rs1057519903
rs1057519903
CUI: C0017638
Disease: Glioma
Glioma
0.050 GeneticVariation BEFREE Despite the presence of H3 K27M mutations, these cases should not be graded and treated as grade IV tumors because they have a better spontaneous outcome than classic diffuse midline H3 K27M-mutant glioma. 27984673

2018

dbSNP: rs1057519903
rs1057519903
CUI: C0017638
Disease: Glioma
Glioma
0.050 GeneticVariation BEFREE Five (12 %) low grade and 11 (50 %) high grade gliomas were positive for the H3F3A/HIST1H3B K27M (H3K27M) mutation. 27577993

2016

dbSNP: rs1057519903
rs1057519903
CUI: C0017638
Disease: Glioma
Glioma
0.050 GeneticVariation BEFREE Pediatric thalamic glioma with H3F3A K27M mutation, which was detected before and after malignant transformation: a case report. 27392443

2016

dbSNP: rs1057519902
rs1057519902
CUI: C0017638
Disease: Glioma
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

dbSNP: rs1553260624
rs1553260624
CUI: C0017638
Disease: Glioma
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