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Gene | KIT |
Variant | V559_G565del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | KIT V559_G565del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 565 (PMID: 12879016). V559_G565del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function. |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT act mut KIT exon 11 del KIT V559_G565del KIT mutant KIT exon11 KIT exon 11 del KIT V559_G565del |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727443_54727463del21 |
cDNA | c.1675_1695del21 |
Protein | p.V559_G565delVVEEING |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001385284.1 | chr4:g.54727440_54727460del21 | c.1675_1695del21 | p.K559_N565delKVVEEIN | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54727455_54727475del21 | c.1675_1695del21 | p.I559_V565delINGNNYV | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54727440_54727460del21 | c.1675_1695del21 | p.K559_N565delKVVEEIN | RefSeq | GRCh38/hg38 |
NM_001385288.1 | chr4:g.54727453_54727473del21 | c.1676_1696del21 | p.E559_Y565delEINGNNY | RefSeq | GRCh38/hg38 |
NM_001385292.1 | chr4:g.54727453_54727473del21 | c.1676_1696del21 | p.E559_Y565delEINGNNY | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727443_54727463del21 | c.1675_1695del21 | p.V559_G565delVVEEING | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54727443_54727463del21 | c.1675_1695del21 | p.V559_G565del | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54727443_54727463del21 | c.1675_1695del21 | p.V559_G565del | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727443_54727463del21 | c.1675_1695del21 | p.V559_G565del | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54727443_54727463del21 | c.1675_1695del21 | p.V559_G565del | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727443_54727463del21 | c.1675_1695del21 | p.V559_G565delVVEEING | RefSeq | GRCh38/hg38 |
NM_001385286.1 | chr4:g.54727455_54727475del21 | c.1675_1695del21 | p.I559_V565delINGNNYV | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT V559_G565del KIT V654A KIT A829P | gastrointestinal stromal tumor | predicted - sensitive | Ripretinib | Case Reports/Case Series | Actionable | In a Phase I trial, treatment with Qinlock (ripretinib) decreased circulating tumor DNA, resulted in stable disease lasting over 26 months in a patient with gastrointestinal stromal tumor harboring a primary KIT V559_G565del mutation and two acquired resistance mutations, KIT V654A and KIT A829P (PMID: 31085175; NCT02571036). | 31085175 |