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KIT N822K
GeneKIT
Variantmissense
Amino Acid ChangeN822K
DNA Change (Coding Nucleotide)2466T>G
Transcript ID (GRCh37/hg19)ENST00000288135
Codon822
Exon17
Genomic Coordinates (GRCh37/hg19)4:55599340-55599340
COSMIC ID1322
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 1
KIT
Variants
KIT N822K
KIT exon(s) 17 any
Primary Sites
Anus
Tumor Types
Melanoma
Interpretation

KIT mutations occur in approximately 15-20% of patients with mucosal melanomas. The majority ofKIT mutations occur within exon 11 and they are less frequent in other exons. The N822K mutation in exon 17 occurs within the kinase domain of KIT. Mutant KIT proteins have increased kinase activity and transforming activity in vitro. Although KIT activating mutations in exons 11 and 13 are typically sensitive to treatment with Imatinib, there was no response to treatment noted in patients harboring mutations in exon 17 (Ref. 4).

Last updated: 2018-04-06 15:06:14 UTC
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Tier 1
KIT
Variants
KIT N822K
Primary Sites
Unknown
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

Regorafenib

Last updated: 2018-04-18 13:20:51 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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