Gene Variant Detail

Gene KIT
Variant K558_V560del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT K558_V560del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 560 (PMID: 12879016). K558_V560del has not been characterized, however similar Kit exon 11 deletions are activating, thus K558_V560del is predicted to lead to a gain of function (PMID: 9438854, PMID: 15365079).
Associated Drug Resistance

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Transcript NM_000222
gDNA chr4:g.54727440_54727448delAAGGTTGTT
cDNA c.1672_1680delAAGGTTGTT
Protein p.K558_V560delKVV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001093772 chr4:g.54727453_54727461delAGATAAATG c.1673_1681delAGATAAATG p.E558_N560delEIN RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727449_54727457delGAGGAGATA c.1672_1680delGAGGAGATA p.E558_I560delEEI RefSeq GRCh38/hg38
NM_000222 chr4:g.54727440_54727448delAAGGTTGTT c.1672_1680delAAGGTTGTT p.K558_V560delKVV RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727449_54727457delGAGGAGATA c.1672_1680delGAGGAGATA p.E558_I560delEEI RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727453_54727461delAGATAAATG c.1673_1681delAGATAAATG p.E558_N560delEIN RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727437_54727445delTGGAAGGTT c.1672_1680delTGGAAGGTT p.W558_V560delWKV RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727440_54727448delAAGGTTGTT c.1672_1680delAAGGTTGTT p.K558_V560delKVV RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727437_54727445delTGGAAGGTT c.1672_1680delTGGAAGGTT p.W558_V560delWKV RefSeq GRCh38/hg38

Filtering

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  • 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 Protein Effect Treatment Approaches
KIT K558_V560del KIT V654A
KIT K558_V560del gain of function - predicted KIT Inhibitor
KIT K558_V560del KIT W557C
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT K558_V560del KIT V654A gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT V654A was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring a primary KIT K558_V560del mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160). 18488160
KIT K558_V560del KIT W557C gastrointestinal stromal tumor predicted - sensitive Ponatinib Case Reports/Case Series Actionable In a clinical study, a GIST patient harboring KIT K558_V560del and KIT W557C, resistant to Gleevec (imatinib), Sutent (sunitinib), and Stivarga (regorafenib), demonstrated sensitivity when treated with Iclusig (ponatinib), which resulted in a radiologic response and stabilization for six months (PMID: 25239608). 25239608