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KIT V559A
GeneKIT
Variantmissense
Amino Acid ChangeV559A
DNA Change (Coding Nucleotide)1676T>C
Transcript ID (GRCh37/hg19)ENST00000288135
Codon559
Exon11
Genomic Coordinates (GRCh37/hg19)4:55593610-55593610
COSMIC ID1255
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 1
KIT
Variants
KIT V559A
Primary Sites
Skin
Tumor Types
Melanoma
Interpretation

KIT mutations are seen in up to 17% of cutaneous melanomas. The V559A mutation in exon 11 occurs within the juxtamembrane domain. In vitro studies have shown that mutant KIT proteins have increased kinase activity. KIT activating mutations in exons 11 and 13 are typically sensitive to treatment with Imatinib. There are multiple clinical trials available for patients with melanomas harboring KIT alterations.

Last updated: 2016-08-31 22:08:06 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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