EGFR L861Q


Variant type

missense mutation

Location

Chromosome 7

Exon

21

Protein change

p.L861Q

cDNA change

-

Genomic coordinate

Chromosome 7

FATHMM prediction

-

Variant category

I

Variant description

The L861Q mutation results in an amino acid substitution at position 861 of EGFR (exon 21), from a leucine (L) to a glutamine (Q). This mutation occurs with a frequency of approximately 2% in all EGFR mutations. L861Q is an EGFR tyrosine kinase inhibitor (TKI) sensitizing mutation, which has also been associated with enhanced effects of EGFR TKIs (PMID: 23242437).

Variant frequence

This section displays the distribution of mutated samples and tissue types (top 5).

CancerDISSECT gene frequenceDISSECT variant frequenceCOSMIC gene frequenceCOSMIC variant frequence
Colorectal cancer0.1178---
Lung cancer0.11160.0063--
Skin cancer0.0396---
Bladder cancer0.0161---
Breast cancer0.008---

Accoiciated drug

CancerDurgDrug typeDrug groupsEvidence level
Lung cancerAfatinibSmall MoleculeApprovedA
Lung cancerErlotinibSmall MoleculeApprovedA
Lung cancerErlotinibSmall MoleculeApprovedA
Lung cancerGefitinibSmall MoleculeApprovedA