chr1:162741822:G>A Detail (hg19) (DDR2)

Information

Genome

Assembly Position
hg19 chr1:162,741,822-162,741,822
hg38 chr1:162,772,032-162,772,032 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006182.2:c.1513G>A NP_006173.2:p.Gly505Ser
NM_001014796.1:c.1513G>A NP_001014796.1:p.Gly505Ser
Ensemble ENST00000367921.8:c.1513G>A ENST00000367921.8:p.Gly505Ser
Summary

MGeND

Clinical significance not provided
Variant entry 2
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 Benign Likely benign
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
COSMIC COSM6936470 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided ill-defined sites within the digestive system not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2015-09-15 criteria provided, single submitter not specified germline Detail
not provided 2016-03-10 no assertion provided Non-small cell lung carcinoma somatic Detail
Likely pathogenic 2014-12-26 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
Benign 2023-12-30 criteria provided, single submitter not provided germline Detail
Likely benign 2022-11-21 criteria provided, single submitter DDR2-related disorder 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 G505S mutation have to be sensitive to the tyrosine kinase inhibit... CIViC Evidence Detail
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) AND not specified ClinVar Detail
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) AND Non-small cell lung carcinoma ClinVar Detail
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) AND Squamous cell lung carcinoma ClinVar Detail
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) AND not provided ClinVar Detail
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) AND DDR2-related disorder 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
rs115169993 dbSNP
Genome
hg19
Position
chr1:162,741,822-162,741,822
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
4318
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)
65596
Allele Counts in All Race (ExAC)
97
Heterozygous Counts in All Race (ExAC)
97
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0014787487041892798
Variant (CIViC) (CIViC Variant)
G505S
Transcript 1 (CIViC Variant)
ENST00000367922.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/142
Summary (CIViC Variant)
Activating mutations in DDR2, including G505S, has been shown to be sensitive to dasatinib in cell lines.
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