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NOTCH2 exon(s) 34 frameshift
GeneNOTCH2
Variantframeshift
Transcript ID (GRCh37/hg19)ENST00000256646
Exon34
Genomic Coordinates (GRCh37/hg19)1:120454176-120459317
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 1
NOTCH2
Variants
NOTCH2 I2304fs
NOTCH2 exon(s) 34 frameshift
Primary Sites
Spleen
Tumor Types
Marginal Zone B Cell Lymphoma
Interpretation

NOTCH2 gain of function mutations have been reported in approximately 25% of splenic marginal zone lymphomas and are thought to be rare in non-splenic marginal zone lymphomas. These mutations are typically located near the C-terminal PEST domain and lead to protein truncation or, more rarely, are nonsynonymous substitution mutations affecting the extracellular heterodimerization domain. In addition, NOTCH2 PEST domain mutations have been reported in approximately 8% of diffuse large B cell lymphomas and in vitro systems suggest that PEST domain mutant NOTCH2 receptors have increased activity compared to wild type NOTCH2. The prognostic and therapeutic implications of these alterations continue to be elucidated.

Last updated: 2015-12-10 20:45:11 UTC
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Tier 1
NOTCH2
Variants
NOTCH2 I2304fs
NOTCH2 exon(s) 34 frameshift
Primary Sites
Blood
Bone Marrow
Tumor Types
Marginal Zone B Cell Lymphoma
Diffuse Large B Cell Lymphoma
Interpretation

NOTCH2 gain of function mutations have been reported in apprximately 25% of splenic marginal zone lymphomas and are thought to be rare in non-splenic marginal zone lymphomas. These mutations are typically located near the C-terminal PEST domain and lead to protein truncation or, more rarely, are nonsynonymous substitution mutations affected the extracellular heterodimerization domain. NOTCH2 mutations may be associated with a worse prognosis among cases of splenic marginal zone lymphoma. In addition, NOTCH2 PEST domain mutations have been reported in approximately 8% of diffuse large B cell lymphomas and in vitro systems have demonstrated these PEST domain mutant NOTCH2 receptors have increased activity compared to wild type NOTCH2. In addion, copy number gain has been reported in a subset of DLBCL cases with NOTCH2 mutations.

Last updated: 2016-06-04 21:03:16 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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