Gene Variant Detail

Gene KIT
Variant D820G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT D820G lies within the protein kinase domain of the Kit protein (UniProt.org). D820G has been identified as a secondary mutation associated with imatinib resistance (PMID: 18488160), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Mar 2019).
Associated Drug Resistance Y

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Transcript NM_000222
gDNA chr4:g.54733167A>G
cDNA c.2459A>G
Protein p.D820G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54733167A>G c.2459A>G p.D820G RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733167A>G c.2459A>G p.D820G RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT D820G KIT V559D Advanced Solid Tumor sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells co-expressing KIT D820G and KIT V559D were sensitive to Flumatinib in culture, demonstrating decreased cell proliferation (PMID: 24205792). 24205792
KIT W557_K558del KIT D820G Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820G Advanced Solid Tumor resistant Imatinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820G Advanced Solid Tumor resistant Regorafenib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT W557_K558del KIT D820G Advanced Solid Tumor resistant Sunitinib Preclinical Actionable In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were resistant to Sutent (sunitinib) in an in vitro kinase assay (PMID: 25239608). 25239608
KIT V555_L576del KIT D820G KIT D820Y gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT D820G and KIT D820Y were identified as secondary mutations in a patient with gastrointestinal stromal tumor harboring a primary KIT V555_L576del mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160). 18488160
KIT P577del KIT W557Lfs*5 KIT D820G gastrointestinal stromal tumor sensitive Cabozantinib Preclinical - Pdx Actionable In a preclinical study, Cometriq (Cabometyx, cabozantinib) slowed tumor growth and decreased mitotic activity in a gastrointestinal stromal tumor patient derived xenograft (PDX) model harboring KIT mutations, P577del, W557Lfs*5, and D820G (PMID: 27777285). 27777285
KIT P577del KIT W557Lfs*5 KIT D820G gastrointestinal stromal tumor sensitive PLX9486 Preclinical - Pdx Actionable In a preclinical study, PLX9486 treatment decreased Mapk and Kit downstream signaling, resulted in tumor volume stabilization in patient-derived xenograft (PDX) models of gastrointestinal stromal tumor harboring KIT P577del, W557Lfs*5, and D820G (18th Annual BSMO Meeting, Feb 2016, abstract O5). detail...
KIT P577del KIT W557Lfs*5 KIT D820G gastrointestinal stromal tumor resistant Imatinib Preclinical - Pdx Actionable In a preclinical study, a gastrointestinal stromal tumor patient derived xenograft (PDX) model harboring KIT mutations, P577del, W557Lfs*5, and D820G, demonstrated resistance to treatment with Gleevec (imatinib) (PMID: 27777285). 27777285