Annotation Detail

Information
Associated Genes
EGFR EGFR-AS1
Associated Variants
EGFR p.Ser768_Asp770dup (p.S768_D770dup) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Ser768_Asp770dup (p.S768_D770dup) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
Non-small cell lung carcinoma
Source Database
ClinVar
Description
NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) AND Non-small cell lung carcinoma
ClinVar Allele ID
54420
ClinVar RefSeq Alternation Syntax
NM_001346898.2:c.2303_2311dup
ClinVar RefSeq Alternation Syntax
NR_047551.1:n.1253_1261dup
ClinVar RefSeq Alternation Syntax
NM_001346897.2:c.2168_2176dup
ClinVar RefSeq Alternation Syntax
NM_005228.5:c.2303_2311dup
ClinVar RefSeq Alternation Syntax
NM_001346899.2:c.2168_2176dup
ClinVar RefSeq Alternation Syntax
NM_001346900.2:c.2144_2152dup
ClinVar RefSeq Alternation Syntax
NM_001346941.2:c.1502_1510dup
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2006-10-28
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000038409
ClinVar Disease
Non-small cell lung carcinoma
Observed Origin Sample
somatic
Drugs