chr4:54727495:T>C Detail (hg38) (KIT)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:55,593,661-55,593,661 View the variant detail on this assembly version. |
hg38 | chr4:54,727,495-54,727,495 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000222.2:c.1727T>C | NP_000213.1:p.Leu576Pro |
NM_001093772.1:c.1718T>C | NP_001087241.1:p.Leu573Pro | |
Ensemble | ENST00000288135.6:c.1727T>C | ENST00000288135.6:p.Leu576Pro |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
![]() ![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2015-07-14 | no assertion criteria provided | melanoma |
![]() |
Detail |
![]() |
2016-03-10 | no assertion provided | Non-small cell lung carcinoma |
![]() |
Detail |
![]() |
2019-07-11 | criteria provided, single submitter | gastrointestinal stromal tumor |
![]() ![]() |
Detail |
![]() |
2014-10-02 | no assertion criteria provided | thymoma |
![]() |
Detail |
![]() |
2021-09-07 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
![]() |
Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
lung non-small cell carcinoma | Dasatinib,Nilotinib,Imatinib | D |
![]() |
![]() |
Sensitivity/Response | Somatic | 3 | 17372901 | Detail |
melanoma | Nilotinib,Imatinib,Sorafenib | D |
![]() |
![]() |
Resistance | Somatic | 3 | 19671763 | Detail |
gastrointestinal stromal tumor | Sunitinib | C |
![]() |
![]() |
Resistance | Somatic | 2 | 18955458 | Detail |
cancer | Dasatinib,Imatinib | D |
![]() |
![]() |
Sensitivity/Response | Somatic | 2 | 25317746 | Detail |
melanoma | Dasatinib | D |
![]() |
![]() |
Sensitivity/Response | Somatic | 3 | 19671763 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Undifferentiated (Embryonal) Sarcoma | Our results revealed 2 mutations in 2 recurrent lesion samples, including one in... | BeFree | 25120743 | Detail |
<0.001 | Undifferentiated (Embryonal) Sarcoma | Our results revealed 2 mutations in 2 recurrent lesion samples, including one in... | BeFree | 25120743 | Detail |
0.068 | melanoma | Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, an... | BeFree | 19671763 | Detail |
0.760 | Gastrointestinal Stromal Tumors | Activate and resist: L576P-KIT in GIST. | BeFree | 19723893 | Detail |
0.068 | melanoma | L576P KIT mutation in anal melanomas correlates with KIT protein expression and ... | BeFree | 17372901 | Detail |
0.760 | Gastrointestinal Stromal Tumors | A novel germline KIT mutation (p.L576P) in a family presenting with juvenile ons... | BeFree | 23598963 | Detail |
0.003 | Thymoma, type C | The mutational analysis of KIT revealed only a missense mutation (L576P) in exon... | BeFree | 18448188 | Detail |
<0.001 | Esophageal Stenosis | A novel germline KIT mutation (p.L576P) in a family presenting with juvenile ons... | BeFree | 23598963 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Ba/F3 cells harboring the KIT L576P mutation are sensitive to nilotinib, imatinib and lower concentr... | CIViC Evidence | Detail |
The melanoma cell line WM3211, which harbors the L576P mutation, is not sensitive to imatinib, nilot... | CIViC Evidence | Detail |
Patient 29 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant ... | CIViC Evidence | Detail |
In an in vitro study, COS-7 cells expressing KIT L576P activating mutation demonstrated sensitivity ... | CIViC Evidence | Detail |
The melanoma cell line WM3211, which harbors the L576P mutation, is sensitive to dasatinib. Molecula... | CIViC Evidence | Detail |
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) AND Melanoma | ClinVar | Detail |
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) AND Non-small cell lung carcinoma | ClinVar | Detail |
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) AND Gastrointestinal stromal tumor | ClinVar | Detail |
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) AND Thymoma | ClinVar | Detail |
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
Our results revealed 2 mutations in 2 recurrent lesion samples, including one in exon 11 of the KIT ... | DisGeNET | Detail |
Our results revealed 2 mutations in 2 recurrent lesion samples, including one in exon 11 of the KIT ... | DisGeNET | Detail |
Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlate... | DisGeNET | Detail |
Activate and resist: L576P-KIT in GIST. | DisGeNET | Detail |
L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to spec... | DisGeNET | Detail |
A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastr... | DisGeNET | Detail |
The mutational analysis of KIT revealed only a missense mutation (L576P) in exon 11 of one thymic ca... | DisGeNET | Detail |
A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastr... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs121913513 dbSNP
- Genome
- hg38
- Position
- chr4:54,727,495-54,727,495
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- L576P
- Transcript 1 (CIViC Variant)
- ENST00000288135.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/72
- Summary (CIViC Variant)
- KIT L576P is an exon 11 mutation that lies within the juxtamembrane domain. It is one of the most recurrent KIT mutations in melanoma, and both in vitro and in vivo studies have shown sensitivity to imatinib.
Genome browser