chr7:55174794:C>T Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,242,487-55,242,487 View the variant detail on this assembly version.
hg38 chr7:55,174,794-55,174,794

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2257C>T NP_005219.2:p.Pro753Ser
NM_001346897.1:c.2122C>T NP_001333826.1:p.Pro708Ser
Ensemble ENST00000450046.2:c.2098C>T ENST00000450046.2:p.Pro700Ser
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 Likely pathogenic
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 COSM6268 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-07-14 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
Likely pathogenic 2014-12-26 no assertion criteria provided Head and neck neoplasm somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
skin squamous cell carcinoma Cetuximab,Sirolimus C Predictive Supports Sensitivity/Response Somatic 3 24934779 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
72-year old male patient presents with SCC with a mutation profile consistent with UV exposure. Sequ... CIViC Evidence Detail
NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser) AND Non-small cell lung carcinoma ClinVar Detail
NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser) AND Head and neck neoplasm 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
rs121913231 dbSNP
Genome
hg38
Position
chr7:55,174,794-55,174,794
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1563367252543941E-4
Chromosome Counts in All Race (ExAC)
121312
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)
8.243207596940122E-6
Variant (CIViC) (CIViC Variant)
P753S
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/460
Genome browser