NM_005228.5(EGFR):c.2232_2252delinsAAAGTT (p.Glu746_Thr751delinsLeu) AND Tyrosine kinase inhibitor response

Germline classification:: drug response (1 submission)
Last evaluated:: Jun 21, 2011
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:: RCV000154644.4

Allele description [Variation Report for NM_005228.5(EGFR):c.2232_2252delinsAAAGTT (p.Glu746_Thr751delinsLeu)]

NM_005228.5(EGFR):c.2232_2252delinsAAAGTT (p.Glu746_Thr751delinsLeu)

Gene:

EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

7p11.2

Genomic location:

Preferred name:

NM_005228.5(EGFR):c.2232_2252delinsAAAGTT (p.Glu746_Thr751delinsLeu)

HGVS:

NC_000007.14:g.55174769_55174789delinsAAAGTT
NG_007726.3:g.160738_160758delinsAAAGTT
NM_001346897.2:c.2097_2117delinsAAAGTT
NM_001346898.2:c.2232_2252delinsAAAGTT
NM_001346899.2:c.2097_2117delinsAAAGTT
NM_001346900.2:c.2073_2093delinsAAAGTT
NM_001346941.2:c.1431_1451delinsAAAGTT
NM_005228.5:c.2232_2252delinsAAAGTTMANE SELECT
NP_001333826.1:p.Glu701_Thr706delinsLeu
NP_001333827.1:p.Glu746_Thr751delinsLeu
NP_001333828.1:p.Glu701_Thr706delinsLeu
NP_001333829.1:p.Glu693_Thr698delinsLeu
NP_001333870.1:p.Glu479_Thr484delinsLeu
NP_005219.2:p.Glu746_Thr751delinsLeu
LRG_304:g.160738_160758delinsAAAGTT
NC_000007.13:g.55242462_55242482delinsAAAGTT

Links:

dbSNP: rs727504428

NCBI 1000 Genomes Browser:

rs727504428

Molecular consequence:

NM_001346897.2:c.2097_2117delinsAAAGTT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001346898.2:c.2232_2252delinsAAAGTT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001346899.2:c.2097_2117delinsAAAGTT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001346900.2:c.2073_2093delinsAAAGTT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001346941.2:c.1431_1451delinsAAAGTT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_005228.5:c.2232_2252delinsAAAGTT - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV000204319	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	drug response (Jun 21, 2011) Condition: Tyrosine kinase inhibitor response	somatic	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15118073, 15118125, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000204319

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

drug response
(Jun 21, 2011)
Condition: Tyrosine kinase inhibitor response

somatic

clinical testing

PubMed (3)
[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	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib.

Lynch TJ, Bell DW, Sordella R, Gurubhagavatula S, Okimoto RA, Brannigan BW, Harris PL, Haserlat SM, Supko JG, Haluska FG, Louis DN, Christiani DC, Settleman J, Haber DA.

N Engl J Med. 2004 May 20;350(21):2129-39. Epub 2004 Apr 29.

PubMed [citation]

PMID:: 15118073

EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy.

Paez JG, Jänne PA, Lee JC, Tracy S, Greulich H, Gabriel S, Herman P, Kaye FJ, Lindeman N, Boggon TJ, Naoki K, Sasaki H, Fujii Y, Eck MJ, Sellers WR, Johnson BE, Meyerson M.

Science. 2004 Jun 4;304(5676):1497-500. Epub 2004 Apr 29.

PubMed [citation]

PMID:: 15118125

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000204319.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

#	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		1	not provided	1	not provided

Last Updated: Dec 24, 2022

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