chr7:55174807:A>G Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,242,500-55,242,500 View the variant detail on this assembly version.
hg38 chr7:55,174,807-55,174,807

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2270A>G NP_005219.2:p.Lys757Arg
NM_001346897.1:c.2135A>G NP_001333826.1:p.Lys712Arg
Ensemble ENST00000275493.7:c.2270A>G ENST00000275493.7:p.Lys757Arg
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 131550 OMIM
HGNC 3236 HGNC
Ensembl ENSG00000146648 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM133588 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2018-03-30 no assertion criteria provided lung adenocarcinoma germline Detail
Uncertain significance 2023-12-26 criteria provided, single submitter EGFR-related lung cancer germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung adenocarcinoma Erlotinib C Predictive Supports Sensitivity/Response Somatic 3 26773740 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a meta-analysis of 7 clinical trials evaluating the efficacy of erlotinib, one patient was descri... CIViC Evidence Detail
NM_005228.5(EGFR):c.2270A>G (p.Lys757Arg) AND Lung adenocarcinoma ClinVar Detail
NM_005228.5(EGFR):c.2270A>G (p.Lys757Arg) AND EGFR-related lung cancer 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
rs397517102 dbSNP
Genome
hg38
Position
chr7:55,174,807-55,174,807
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1566042100393245E-4
Chromosome Counts in All Race (ExAC)
121274
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.24579052393753E-6
Variant (CIViC) (CIViC Variant)
K757R
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/723
Genome browser