NM_005228.5(EGFR):c.2240_2248del (p.Leu747_Ala750delinsSer) AND Non-small cell lung cancer

Clinical significance:Likely pathogenic (Last evaluated: Mar 1, 2008)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000038393.2

Allele description [Variation Report for NM_005228.5(EGFR):c.2240_2248del (p.Leu747_Ala750delinsSer)]

NM_005228.5(EGFR):c.2240_2248del (p.Leu747_Ala750delinsSer)

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.2240_2248del (p.Leu747_Ala750delinsSer)
HGVS:
  • NC_000007.14:g.55174777_55174785del
  • NG_007726.3:g.160746_160754del
  • NM_001346897.2:c.2105_2113del
  • NM_001346898.2:c.2240_2248del
  • NM_001346899.1:c.2105_2113del
  • NM_001346900.2:c.2081_2089del
  • NM_001346941.2:c.1439_1447del
  • NM_005228.5:c.2240_2248delMANE SELECT
  • NP_001333826.1:p.Leu702_Ala705delinsSer
  • NP_001333827.1:p.Leu747_Ala750delinsSer
  • NP_001333828.1:p.Leu702_Ala705delinsSer
  • NP_001333829.1:p.Leu694_Ala697delinsSer
  • NP_001333870.1:p.Leu480_Ala483delinsSer
  • NP_005219.2:p.Leu747_Ala750delinsSer
  • LRG_304t1:c.2240_2248del
  • LRG_304:g.160746_160754del
  • NC_000007.13:g.55242470_55242478del
  • NC_000007.13:g.55242470_55242478delTAAGAGAAG
  • NM_005228.3:c.2240_2248delTAAGAGAAG
  • c.2240_2248delTAAGAGAAG
  • p.Leu747_Glu749del
Links:
dbSNP: rs397517098
NCBI 1000 Genomes Browser:
rs397517098
Molecular consequence:
  • NM_001346897.2:c.2105_2113del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001346898.2:c.2240_2248del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001346899.1:c.2105_2113del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001346900.2:c.2081_2089del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001346941.2:c.1439_1447del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_005228.5:c.2240_2248del - inframe_indel - [Sequence Ontology: SO:0001820]
Observations:
1

Condition(s)

Name:
Non-small cell lung cancer (NSCLC)
Synonyms:
Non-small cell lung carcinoma
Identifiers:
MONDO: MONDO:0005233; MeSH: D002289; MedGen: C0007131; Human Phenotype Ontology: HP:0030358

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000062065Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicineno assertion criteria providedLikely pathogenic
(Mar 1, 2008)
somaticclinical testing

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, SCV000062065.2

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

Last Updated: Jul 7, 2021

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