U.S. flag

An official website of the United States government

NM_005228.5(EGFR):c.2237_2251del (p.Glu746_Thr751delinsAla) AND Tyrosine kinase inhibitor response

Germline classification:
drug response (1 submission)
Last evaluated:
Oct 28, 2006
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000154229.4

Allele description [Variation Report for NM_005228.5(EGFR):c.2237_2251del (p.Glu746_Thr751delinsAla)]

NM_005228.5(EGFR):c.2237_2251del (p.Glu746_Thr751delinsAla)

Gene:
EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p11.2
Genomic location:
Preferred name:
NM_005228.5(EGFR):c.2237_2251del (p.Glu746_Thr751delinsAla)
HGVS:
  • NC_000007.14:g.55174774_55174788del
  • NG_007726.3:g.160743_160757del
  • NM_001346897.2:c.2102_2116del
  • NM_001346898.2:c.2237_2251del
  • NM_001346899.2:c.2102_2116del
  • NM_001346900.2:c.2078_2092del
  • NM_001346941.2:c.1436_1450del
  • NM_005228.5:c.2237_2251delMANE SELECT
  • NP_001333826.1:p.Glu701_Thr706delinsAla
  • NP_001333827.1:p.Glu746_Thr751delinsAla
  • NP_001333828.1:p.Glu701_Thr706delinsAla
  • NP_001333829.1:p.Glu693_Thr698delinsAla
  • NP_001333870.1:p.Glu479_Thr484delinsAla
  • NP_005219.2:p.Glu746_Thr751delinsAla
  • LRG_304:g.160743_160757del
  • NC_000007.13:g.55242467_55242481del
Links:
dbSNP: rs121913425
NCBI 1000 Genomes Browser:
rs121913425
Molecular consequence:
  • NM_001346897.2:c.2102_2116del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001346898.2:c.2237_2251del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001346899.2:c.2102_2116del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001346900.2:c.2078_2092del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001346941.2:c.1436_1450del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_005228.5:c.2237_2251del - inframe_indel - [Sequence Ontology: SO:0001820]
Observations:
4

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000203884Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
no assertion criteria provided
drug response
(Oct 28, 2006)
Condition: Tyrosine kinase inhibitor response		somaticclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot provided44not providednot providednot providedclinical testing

Citations

PubMed

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

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

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000203884.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot provided4not provided4not provided

Last Updated: Sep 1, 2024