chr1:162754625:C>G Detail (hg38) (DDR2)

Information

Genome

Assembly Position
hg19 chr1:162,724,415-162,724,415 View the variant detail on this assembly version.
hg38 chr1:162,754,625-162,754,625

HGVS

Type Transcript Protein
RefSeq NM_006182.2:c.187C>G NP_006173.2:p.Leu63Val
NM_001014796.1:c.187C>G NP_001014796.1:p.Leu63Val
Ensemble ENST00000367921.8:c.187C>G ENST00000367921.8:p.Leu63Val
Summary

MGeND

Clinical significance
Variant entry
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 Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 191311 OMIM
HGNC 2731 HGNC
Ensembl ENSG00000162733 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv302261279 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2014-12-26 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
not provided 2016-03-10 no assertion provided Non-small cell lung carcinoma somatic Detail
Uncertain significance 2022-05-15 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-08-02 criteria provided, single submitter not specified germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Dasatinib D Predictive Supports Sensitivity/Response Somatic 4 22328973 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 squamous cell carcinoma Targeted proteomic profiling of a panel of lung SCC (squamous cell carcinoma) DD... BeFree 23822953 Detail
<0.001 squamous cell carcinoma Targeted proteomic profiling of a panel of lung SCC (squamous cell carcinoma) DD... BeFree 23822953 Detail
Annotation

Annotations

DescrptionSourceLinks
In 3T3 fibroblasts expressing the L63V mutation have to be sensitive to the tyrosine kinase inhibito... CIViC Evidence Detail
NM_006182.4(DDR2):c.187C>G (p.Leu63Val) AND Squamous cell lung carcinoma ClinVar Detail
NM_006182.4(DDR2):c.187C>G (p.Leu63Val) AND Non-small cell lung carcinoma ClinVar Detail
NM_006182.4(DDR2):c.187C>G (p.Leu63Val) AND not provided ClinVar Detail
NM_006182.4(DDR2):c.187C>G (p.Leu63Val) AND not specified ClinVar Detail
Targeted proteomic profiling of a panel of lung SCC (squamous cell carcinoma) DDR2 mutants demonstra... DisGeNET Detail
Targeted proteomic profiling of a panel of lung SCC (squamous cell carcinoma) DDR2 mutants demonstra... 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
rs144594252 dbSNP
Genome
hg38
Position
chr1:162,754,625-162,754,625
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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)
121328
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.593696426216537E-5
Variant (CIViC) (CIViC Variant)
L63V
Transcript 1 (CIViC Variant)
ENST00000367922.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/139
Summary (CIViC Variant)
Activating mutations in DDR2, including L63V, has been shown to be sensitive to dasatinib in cell lines.
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