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KIT A502_Y503dup - Gene Variant Detail

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Gene KIT
Variant A502_Y503dup
Impact List duplication
Protein Effect gain of function
Gene Variant Descriptions KIT A502_Y503dup (also referred to as Y503_F504insAY) indicates the insertion of 2 duplicate amino acids, alanine (A)-502 through tyrosine (Y)-503, in the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). A502_Y503dup results in constitutive phosphorylation of Kit and is transforming in cell culture (PMID: 15790786, PMID: 19865100).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT A502_Y503dup

KIT mutant KIT exon9 KIT exon 9 ins KIT A502_Y503dup

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Transcript NM_000222.3
gDNA chr4:g.54726014_54726019
cDNA c.1504_1509
Protein p.A502_Y503
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772.2 chr4:g.54726014_54726019 c.1504_1509 p.A502_Y503 RefSeq GRCh38/hg38
XM_017008178 chr4:g.54726014_54726019 c.1504_1509 p.A502_Y503 RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54726014_54726019 c.1504_1509 p.A502_Y503 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54726014_54726019 c.1504_1509 p.A502_Y503 RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54726014_54726019 c.1504_1509 p.A502_Y503 RefSeq GRCh38/hg38
NM_000222 chr4:g.54726014_54726019 c.1504_1509 p.A502_Y503 RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54726014_54726019 c.1504_1509 p.A502_Y503 RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54726014_54726019 c.1504_1509 p.A502_Y503 RefSeq GRCh38/hg38
NM_001093772 chr4:g.54726014_54726019 c.1504_1509 p.A502_Y503 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54726014_54726019 c.1504_1509 p.A502_Y503 RefSeq GRCh38/hg38
XM_017008180 chr4:g.54726014_54726019 c.1504_1509 p.A502_Y503 RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54726014_54726019 c.1504_1509 p.A502_Y503 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT A502_Y503dup KIT D820E gastrointestinal stromal tumor resistant Imatinib Preclinical - Pdx Actionable In a preclinical study, Gleevec (imatinib mesylate) did not inhibit Kit, Erk, or Mtor signaling and resulted in minimal (7.4%) tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup and KIT D820E, which was established from a patient who did not respond to Gleevec (imatinib mesylate) and Sutent (sunitinib) (PMID: 29100343). 29100343
KIT A502_Y503dup KIT D820E gastrointestinal stromal tumor predicted - resistant Sunitinib Preclinical - Pdx Actionable In a preclinical study, Sutent (sunitinib) did not inhibit Kit, Erk, or Mtor signaling and resulted in minimal (26.2%) tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup and KIT D820E, which was established from a patient who did not respond to Gleevec (imatinib mesylate) and Sutent (sunitinib) (PMID: 29100343). 29100343
KIT A502_Y503dup KIT N822K gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT N822K was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring a primary KIT A502_Y503dup mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160). 18488160
KIT A502_Y503dup KIT N822K gastrointestinal stromal tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring KIT A502_Y503dup and expressing KIT N822K in culture (PMID: 38408285). 38408285
KIT A502_Y503dup KIT N822K gastrointestinal stromal tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, a gastrointestinal stromal tumor cell line harboring KIT A502_Y503dup and expressing KIT N822K demonstrated resistance to Sutent (sunitinib) in culture (PMID: 38408285). 38408285
KIT A502_Y503dup KIT V654A Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT A502_Y503dup KIT V654A Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated sensitivity to Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT A502_Y503dup KIT V654A Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT V654A Advanced Solid Tumor resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated resistance to Stivarga (regorafenib) in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT V654A Advanced Solid Tumor resistant Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated resistance to Ayvakit (avapritinib) in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT V654A Advanced Solid Tumor decreased response Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated a decreased response to treatment with Qinlock (ripretinib) compared to cells expressing KIT A502_Y503dup alone in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT D816H Advanced Solid Tumor resistant Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT D816H Advanced Solid Tumor resistant Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT D816H Advanced Solid Tumor resistant Regorafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated resistance to Stivarga (regorafenib) in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT D816H Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT A502_Y503dup KIT D816H Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated increased sensitivity to treatment with Ayvakit (avapritinib) compared to cells expressing KIT A502_Y503dup alone in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT D816H Advanced Solid Tumor decreased response Ripretinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated a decreased response to treatment with Qinlock (ripretinib) compared to cells expressing KIT A502_Y503dup alone in culture (PMID: 32350132). 32350132
KIT A502_Y503dup KIT T574_P577del KIT V654A KIT N822K gastrointestinal stromal tumor predicted - resistant Ripretinib Case Reports/Case Series Actionable In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT A502_Y503dup progressed on third-line treatment with Qinlock (ripretinib) after 7.0 months and was found to have acquired KIT T574_P577del (reported as P573_L576del), V654A, and N822K in one of the metastatic lesions (PMID: 38408285). 38408285