NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) AND Tyrosine kinase inhibitor response

Germline classification:: drug response (1 submission)
Last evaluated:: Jun 1, 2012
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000150613.4

Allele description [Variation Report for NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup)]

NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup)

Genes:

EGFR-AS1:EGFR antisense RNA 1 [Gene - HGNC]
EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

7p11.2

Genomic location:

Preferred name:

NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup)

Other names:

NC_000007.13:g.55249013_55249014insGCGTGGACA; p.Ser768_Asp770dup; NC_000007.13:g.55249011_55249012insCAGCGTGGA

HGVS:

NC_000007.14:g.55181312_55181320dup
NG_007726.3:g.167281_167289dup
NM_001346897.2:c.2168_2176dup
NM_001346898.2:c.2303_2311dup
NM_001346899.2:c.2168_2176dup
NM_001346900.2:c.2144_2152dup
NM_001346941.2:c.1502_1510dup
NM_005228.5:c.2303_2311dupMANE SELECT
NP_001333826.1:p.Ser723_Asp725dup
NP_001333827.1:p.Ser768_Asp770dup
NP_001333828.1:p.Ser723_Asp725dup
NP_001333829.1:p.Ser715_Asp717dup
NP_001333870.1:p.Ser501_Asp503dup
NP_005219.2:p.Ser768_Asp770dup
LRG_304t1:c.2303_2311dup
LRG_304:g.167281_167289dup
NC_000007.13:g.55249005_55249013dup
NM_005228.3:c.2301_2309dupCAGCGTGGA
NM_005228.3:c.2303_2311dupGCGTGGACA
NR_047551.1:n.1253_1261dup
c.2303_2311dupGCGTGGACA

Links:

dbSNP: rs397517109

Molecular consequence:

NM_001346897.2:c.2168_2176dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001346898.2:c.2303_2311dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001346899.2:c.2168_2176dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001346900.2:c.2144_2152dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001346941.2:c.1502_1510dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_005228.5:c.2303_2311dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NR_047551.1:n.1253_1261dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Tyrosine kinase inhibitor response
Synonyms:: Protein-tyrosine kinase inhibitor response
Identifiers:: MedGen: CN225347

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000197904	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	drug response (Jun 1, 2012) Condition: Tyrosine kinase inhibitor response	somatic	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16187797, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000197904

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

drug response
(Jun 1, 2012)
Condition: Tyrosine kinase inhibitor response

somatic

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	not provided	6	6	not provided	not provided	not provided	clinical testing

Citations

PubMed

Oncogenic transformation by inhibitor-sensitive and -resistant EGFR mutants.

Greulich H, Chen TH, Feng W, Jänne PA, Alvarez JV, Zappaterra M, Bulmer SE, Frank DA, Hahn WC, Sellers WR, Meyerson M.

PLoS Med. 2005 Nov;2(11):e313. Epub 2005 Oct 4. Erratum in: PLoS Med. 2024 Sep 16;21(9):e1004470. doi: 10.1371/journal.pmed.1004470..

PubMed [citation]

PMID:: 16187797
PMCID:: PMC1240052

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000197904.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing	PubMed (2)

Description

Ser768_Asp770dup has been reported in the literature in at least four individuals that have been treated with an EGFR tyrosine kinase inhibitor (gefitinib; Wu 2008). Three of these individuals exhibited progressive disease and one individual exhibited partial response as the maximal response. Insertions in exon 20 of EGFR such as this have been associated with resistance to EGFR tyrosine kinase inhibitors in vitro (Greulich 2005).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	not provided	not provided	not provided		6	not provided	6	not provided

Last Updated: Mar 5, 2025

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