Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1353428252
rs1353428252
0.060 GeneticVariation BEFREE The RHOA G17V mutation serves as a useful biomarker for cytological assessment in AITL. 31394087

2019

dbSNP: rs1353428252
rs1353428252
0.060 GeneticVariation BEFREE Expression of TFH Markers and Detection of RHOA p.G17V and IDH2 p.R172K/S Mutations in Cutaneous Localizations of Angioimmunoblastic T-Cell Lymphomas. 28945625

2017

dbSNP: rs1353428252
rs1353428252
0.060 GeneticVariation BEFREE These analyses identified highly recurrent epigenetic factor mutations in TET2, DNMT3A and IDH2 as well as a new highly prevalent RHOA mutation encoding a p.Gly17Val alteration present in 22 of 35 (67%) angioimmunoblastic T cell lymphoma (AITL) samples and in 8 of 44 (18%) PTCL, not otherwise specified (PTCL-NOS) samples. 24413734

2014

dbSNP: rs1353428252
rs1353428252
0.060 GeneticVariation BEFREE Genome wide sequencing studies have dissected the repertoire of the genetic alterations driving AITL uncovering a highly recurrent Gly17Val somatic mutation in the small GTPase RHOA and major role for mutations in epigenetic regulators, such as TET2, DNMT3A and IDH2, and signaling factors (e.g., FYN and CD28). 27177312

2016

dbSNP: rs1353428252
rs1353428252
0.060 GeneticVariation BEFREE Here we report somatic RHOA mutations encoding a p.Gly17Val alteration in 68% of AITL samples. 24413737

2014

dbSNP: rs1353428252
rs1353428252
0.060 GeneticVariation BEFREE Recent genetic studies identified that the disease-specific G17V RHOA mutation, together with mutations in TET2, DNMT3A, and IDH2, is a hallmark of angioimmunoblastic T cell lymphomas (AITL). 28634614

2017

dbSNP: rs121913503
rs121913503
0.020 GeneticVariation BEFREE The IDH2 R172K mutation associated with angioimmunoblastic T-cell lymphoma produces 2HG in T cells and impacts lymphoid development. 27956631

2016

dbSNP: rs121913503
rs121913503
0.020 GeneticVariation BEFREE Expression of TFH Markers and Detection of RHOA p.G17V and IDH2 p.R172K/S Mutations in Cutaneous Localizations of Angioimmunoblastic T-Cell Lymphomas. 28945625

2017

dbSNP: rs1057519736
rs1057519736
0.010 GeneticVariation BEFREE We report the first case of discordant intracellular and plasma D-2HG levels in a patient with IDH2 R172S mutated AITL. 26617922

2015