Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Leu858Arg (p.L858R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Leu858Arg (p.L858R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
lung adenocarcinoma
Source Database
ClinVar
Description
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) AND Lung adenocarcinoma
ClinVar Allele ID
31648
ClinVar RefSeq Alternation Syntax
NM_001346899.2:c.2438T>G
ClinVar RefSeq Alternation Syntax
NM_001346941.2:c.1772T>G
ClinVar RefSeq Alternation Syntax
NM_001346898.2:c.2573T>G
ClinVar RefSeq Alternation Syntax
NM_001346900.2:c.2414T>G
ClinVar RefSeq Alternation Syntax
NM_001346897.2:c.2438T>G
ClinVar RefSeq Alternation Syntax
NM_005228.5:c.2573T>G
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2022-06-06
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000418019
ClinVar Disease
Lung adenocarcinoma
Observed Origin Sample
somatic
Drugs