chr7:55249007:G>A Detail (hg19) (EGFR, EGFR-AS1)

Information

Genome

Assembly Position
hg19 chr7:55,249,007-55,249,007
hg38 chr7:55,181,314-55,181,314 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001346897.1:c.2170G>A NP_001333826.1:p.Val724Met
NM_005228.3:c.2305G>A NP_005219.2:p.Val769Met
Ensemble ENST00000455089.5:c.2170G>A ENST00000455089.5:p.Val724Met
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 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 COSM13425 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided duodenum 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
Uncertain significance 2013-06-27 no assertion criteria provided lung carcinoma germline Detail
Uncertain significance 2024-01-09 criteria provided, single submitter EGFR-related lung cancer germline Detail
Uncertain significance 2021-08-26 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.200 Adenocarcinoma of lung (disorder) Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rar... BeFree 17045698 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005228.5(EGFR):c.2305G>A (p.Val769Met) AND Lung carcinoma ClinVar Detail
NM_005228.5(EGFR):c.2305G>A (p.Val769Met) AND EGFR-related lung cancer ClinVar Detail
NM_005228.5(EGFR):c.2305G>A (p.Val769Met) AND Hereditary cancer-predisposing syndrome ClinVar Detail
Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rare EGFR mutations S76... 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
rs147149347 dbSNP
Genome
hg19
Position
chr7:55,249,007-55,249,007
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8626
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)
120770
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6560404073859402E-5
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