NM_005228.5(EGFR):c.2315_2320dup (p.Val774_Cys775insAlaHis) AND Non-small cell lung cancer

Clinical significance:Likely pathogenic (Last evaluated: Oct 14, 2010)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000038416.2

Allele description [Variation Report for NM_005228.5(EGFR):c.2315_2320dup (p.Val774_Cys775insAlaHis)]

NM_005228.5(EGFR):c.2315_2320dup (p.Val774_Cys775insAlaHis)

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.2315_2320dup (p.Val774_Cys775insAlaHis)
Other names:
NC_000007.13:g.55249022_55249023insCCCACG
HGVS:
  • NC_000007.14:g.55181324_55181329dup
  • NG_007726.3:g.167293_167298dup
  • NM_001346897.2:c.2180_2185dup
  • NM_001346898.2:c.2315_2320dup
  • NM_001346899.1:c.2180_2185dup
  • NM_001346900.2:c.2156_2161dup
  • NM_001346941.2:c.1514_1519dup
  • NM_005228.5:c.2315_2320dupMANE SELECT
  • NP_001333826.1:p.Val729_Cys730insAlaHis
  • NP_001333827.1:p.Val774_Cys775insAlaHis
  • NP_001333828.1:p.Val729_Cys730insAlaHis
  • NP_001333829.1:p.Val721_Cys722insAlaHis
  • NP_001333870.1:p.Val507_Cys508insAlaHis
  • NP_005219.2:p.Val774_Cys775insAlaHis
  • LRG_304t1:c.2315_2320dup
  • LRG_304:g.167293_167298dup
  • NC_000007.13:g.55249017_55249022dup
  • NM_005228.3:c.2315_2320dupCCCACG
  • NR_047551.1:n.1242_1247dup
  • c.2315_2320dupCCCACG
Links:
dbSNP: rs397517114
NCBI 1000 Genomes Browser:
rs397517114
Molecular consequence:
  • NM_001346897.2:c.2180_2185dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001346898.2:c.2315_2320dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001346899.1:c.2180_2185dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001346900.2:c.2156_2161dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001346941.2:c.1514_1519dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_005228.5:c.2315_2320dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NR_047551.1:n.1242_1247dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV000062088Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Oct 14, 2010)
somaticclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot provided11not providednot providednot providedclinical 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.

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, Partners HealthCare Personalized Medicine, SCV000062088.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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