Gene Variant Detail

Gene KIT
Variant V560_Y578del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT V560_Y578del results in the deletion of eighteen amino acids in the juxtamembrane domain of the Kit protein from amino acids 560 to 578 (PMID: 12879016). V560_Y578del has not been characterized, however, similar Kit exon 11 deletions are activating, thus V560_Y578del is predicted to lead to a gain of function (PMID: 9438854, PMID: 15365079).
Associated Drug Resistance

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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Transcript NM_000222
gDNA chr4:g.54727447_54727503del57
cDNA c.1679_1735del57
Protein p.V560_Y578del19
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008180 chr4:g.54727458_54727514del57 c.1678_1734del57 p.N560_W578del19 RefSeq GRCh38/hg38
NM_000222 chr4:g.54727447_54727503del57 c.1679_1735del57 p.V560_Y578del19 RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727447_54727503del57 c.1679_1735del57 p.V560_Y578del19 RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727458_54727514del57 c.1678_1734del57 p.N560_W578del19 RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727443_54727499del57 c.1678_1734del57 p.V560_P578del19 RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727455_54727511del57 c.1678_1734del57 p.I560_K578del19 RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727443_54727499del57 c.1678_1734del57 p.V560_P578del19 RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727455_54727511del57 c.1678_1734del57 p.I560_K578del19 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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
KIT V560_Y578del gain of function - predicted KIT Inhibitor
KIT V560_Y578del KIT T670I
KIT V560_Y578del KIT D816E
KIT V560_Y578del KIT A829P
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT V560_Y578del gastrointestinal stromal tumor sensitive Imatinib Preclinical Actionable In a preclinical study, a patient derived GIST cell line harboring KIT V560_Y578del demonstrated sensitivity to Gleevec (imatinib) in culture (PMID: 25239608). 25239608
KIT V560_Y578del gastrointestinal stromal tumor sensitive BGJ398 + Imatinib Preclinical - Cell culture Actionable In a preclinical study, BGJ398 and Gleevec (imatinib mesylate) combination treatment demonstrated enhanced antiproliferative activity in gastrointestinal stromal tumor cells harboring KIT V560_Y578del in culture (PMID: 25673643). 25673643
KIT V560_Y578del gastrointestinal stromal tumor sensitive Ponatinib Preclinical - Patient cell culture Actionable In a preclinical study, a patient-derived gastrointestinal stromal tumor (GIST) cell line harboring KIT V560_Y578del demonstrated sensitivity to Iclusig (ponatinib) in culture (PMID: 25239608). 25239608
KIT V560_Y578del KIT T670I gastrointestinal stromal tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, a patient derived GIST cell line co-harboring KIT V560_Y578del and KIT T670I demonstrated sensitivity to treatment with Iclusig (ponatinib) (PMID: 25239608). 25239608
KIT V560_Y578del KIT T670I gastrointestinal stromal tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, a patient derived GIST cell line co-harboring KIT V560_Y578del and KIT T670I demonstrated sensitivity to treatment with Sutent (sunitinib) (PMID: 25239608). 25239608
KIT V560_Y578del KIT D816E gastrointestinal stromal tumor decreased response Sunitinib Preclinical Actionable In a preclinical study, a patient derived GIST cell line co-harboring KIT V560_Y578del and KIT D816E demonstrated a decreased response to treatment with Sutent (sunitinib) (PMID: 25239608). 25239608
KIT V560_Y578del KIT A829P gastrointestinal stromal tumor decreased response Sunitinib Preclinical Actionable In a preclinical study, a patient derived GIST cell line co-harboring KIT V560_Y578del and KIT A829P demonstrated a decreased response to treatment with Sutent (sunitinib) (PMID: 25239608). 25239608