chr7:55259434:G>A Detail (hg19) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,259,434-55,259,434
hg38 chr7:55,191,741-55,191,741 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2492G>A NP_005219.2:p.Arg831His
NM_001346897.1:c.2357G>A NP_001333826.1:p.Arg786His
Ensemble ENST00000275493.7:c.2492G>A ENST00000275493.7:p.Arg831His
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 Conflicting classifications of pathogenicity
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 COSM53105 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-09-06 criteria provided, single submitter Squamous cell lung carcinoma germline Detail
Pathogenic 2017-09-06 criteria provided, single submitter lung adenocarcinoma germline Detail
Uncertain significance 2024-01-27 criteria provided, single submitter EGFR-related lung cancer germline Detail
Uncertain significance 2021-07-06 criteria provided, single submitter not specified germline Detail
Uncertain significance 2022-02-18 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
malignant mesothelioma Erlotinib D Predictive Supports Sensitivity/Response Somatic 20942962 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In an in vitro study, a COS-7 cell line expressing EGFR R831H demonstrated increased sensitivity to ... CIViC Evidence Detail
NM_005228.5(EGFR):c.2492G>A (p.Arg831His) AND Squamous cell lung carcinoma ClinVar Detail
NM_005228.5(EGFR):c.2492G>A (p.Arg831His) AND Lung adenocarcinoma ClinVar Detail
NM_005228.5(EGFR):c.2492G>A (p.Arg831His) AND EGFR-related lung cancer ClinVar Detail
NM_005228.5(EGFR):c.2492G>A (p.Arg831His) AND not specified ClinVar Detail
NM_005228.5(EGFR):c.2492G>A (p.Arg831His) AND Hereditary cancer-predisposing syndrome 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
rs150036236 dbSNP
Genome
hg19
Position
chr7:55,259,434-55,259,434
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8566
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)
120736
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.797773654916512E-5
Variant (CIViC) (CIViC Variant)
R831H
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1017
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