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NM_005228.5(EGFR):c.2237_2248delinsCCC (p.Glu746_Ala750delinsAlaPro) 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:
RCV000150618.1

Allele description

NM_005228.5(EGFR):c.2237_2248delinsCCC (p.Glu746_Ala750delinsAlaPro)

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.2237_2248delinsCCC (p.Glu746_Ala750delinsAlaPro)
HGVS:
  • NC_000007.14:g.55174774_55174785delinsCCC
  • NG_007726.3:g.160743_160754delinsCCC
  • NM_001346897.2:c.2102_2113delinsCCC
  • NM_001346898.2:c.2237_2248delinsCCC
  • NM_001346899.2:c.2102_2113delinsCCC
  • NM_001346900.2:c.2078_2089delinsCCC
  • NM_001346941.2:c.1436_1447delinsCCC
  • NM_005228.5:c.2237_2248delinsCCCMANE SELECT
  • NP_001333826.1:p.Glu701_Ala705delinsAlaPro
  • NP_001333827.1:p.Glu746_Ala750delinsAlaPro
  • NP_001333828.1:p.Glu701_Ala705delinsAlaPro
  • NP_001333829.1:p.Glu693_Ala697delinsAlaPro
  • NP_001333870.1:p.Glu479_Ala483delinsAlaPro
  • NP_005219.2:p.Glu746_Ala750delinsAlaPro
  • LRG_304:g.160743_160754delinsCCC
  • NC_000007.13:g.55242467_55242478delinsCCC
Links:
dbSNP: rs727503015
NCBI 1000 Genomes Browser:
rs727503015
Molecular consequence:
  • NM_001346897.2:c.2102_2113delinsCCC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001346898.2:c.2237_2248delinsCCC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001346899.2:c.2102_2113delinsCCC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001346900.2:c.2078_2089delinsCCC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001346941.2:c.1436_1447delinsCCC - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_005228.5:c.2237_2248delinsCCC - inframe_indel - [Sequence Ontology: SO:0001820]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000197915Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
no assertion criteria provided
drug response
(Oct 28, 2006)
Condition: Tyrosine kinase inhibitor response		somaticclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot provided11not providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000197915.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot provided1not provided1not provided

Last Updated: Feb 20, 2022