chr4:55561792:C>T Detail (hg19) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,561,792-55,561,792
hg38 chr4:54,695,626-54,695,626 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000222.2:c.182C>T NP_000213.1:p.Pro61Leu
NM_001093772.1:c.182C>T NP_001087241.1:p.Pro61Leu
Ensemble ENST00000288135.6:c.182C>T ENST00000288135.6:p.Pro61Leu
Summary

MGeND

Clinical significance Benign Uncertain significance not provided
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 164920 OMIM
HGNC 6342 HGNC
Ensembl ENSG00000157404 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Uncertain significance 2019/07/19 other digestive organs germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-01-26 criteria provided, single submitter gastrointestinal stromal tumor germline Detail
Uncertain significance 2023-07-27 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Benign 2022-01-01 criteria provided, single submitter ovarian cancer germline Detail
Uncertain significance 2023-03-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000222.3(KIT):c.182C>T (p.Pro61Leu) AND Gastrointestinal stromal tumor ClinVar Detail
NM_000222.3(KIT):c.182C>T (p.Pro61Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000222.3(KIT):c.182C>T (p.Pro61Leu) AND Ovarian cancer ClinVar Detail
NM_000222.3(KIT):c.182C>T (p.Pro61Leu) AND not provided ClinVar 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
rs557317141 dbSNP
Genome
hg19
Position
chr4:55,561,792-55,561,792
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121388
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4714139783174613E-5
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