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SETD2
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SETD2 any frameshift
GeneSETD2
Variantframeshift
Transcript ID (GRCh37/hg19)ENST00000409792
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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SETD2
Variants
SETD2 any nonsense
SETD2 any frameshift
SETD2 any missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
T Lymphoblastic Leukemia/Lymphoma
Interpretation

SETD2 encodes a H3K36 trimethylase and loss of function mutations (missense, nonsense and frameshift mutations) have been reported in approximately 10% of acute myeloid leukemia, and 10% of acute lymphoblastic leukemia, including acute early T cell precursor acute lymphoblastic leukemia. SETD2 mutations appear to be enriched among cases of acute leukemia with rearrangements of MLL. Coexistence of two mutations in SETD2 has been described and together with recurrent loss of function mutations suggest this gene is acts as a tumor suppressor. The presence of loss of function mutations in SETD2 has been associated with global loss of H3K36me3. In addition, the presence of SETD2 mutations may be associated with therapy resistance.

Last updated: 2016-06-04 21:31:38 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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