NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro) AND Non-small cell lung cancer

Clinical significance:Likely pathogenic (Last evaluated: Jul 14, 2015)

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:
RCV000425827.1

Allele description [Variation Report for NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro)]

NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro)

Gene:
EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p11.2
Genomic location:
Preferred name:
NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro)
HGVS:
  • NC_000007.14:g.55174785G>C
  • NG_007726.3:g.160754G>C
  • NM_001346897.2:c.2113G>C
  • NM_001346898.2:c.2248G>C
  • NM_001346899.1:c.2113G>C
  • NM_001346900.2:c.2089G>C
  • NM_001346941.2:c.1447G>C
  • NM_005228.5:c.2248G>CMANE SELECT
  • NP_001333826.1:p.Ala705Pro
  • NP_001333827.1:p.Ala750Pro
  • NP_001333828.1:p.Ala705Pro
  • NP_001333829.1:p.Ala697Pro
  • NP_001333870.1:p.Ala483Pro
  • NP_005219.2:p.Ala750Pro
  • LRG_304t1:c.2248G>C
  • LRG_304:g.160754G>C
  • NC_000007.13:g.55242478G>C
  • NM_005228.3:c.2248G>C
  • c.2248G>C
Protein change:
A483P
Links:
dbSNP: rs121913229
NCBI 1000 Genomes Browser:
rs121913229
Molecular consequence:
  • NM_001346897.2:c.2113G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346898.2:c.2248G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346899.1:c.2113G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346900.2:c.2089G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346941.2:c.1447G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005228.5:c.2248G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000505066Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Jul 14, 2015)
somaticliterature only

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE, Garcia E, Shivdasani P, Ducar M, Adusumilli R, Breneiser M, Byrne M, Chung L, Conneely J, Crosby L, Garraway LA, Gong X, Hahn WC, Hatton C, Kantoff PW, Kluk M, Kuo F, Jia Y, Joshi R, Longtine J, Manning A, Palescandolo E, et al.

J Mol Diagn. 2014 Nov;16(6):660-72. doi: 10.1016/j.jmoldx.2014.06.004. Epub 2014 Aug 23.

PubMed [citation]
PMID:
25157968
PMCID:
PMC4210463

Differential sensitivities to tyrosine kinase inhibitors in NSCLC harboring EGFR mutation and ALK translocation.

Lee JK, Kim TM, Koh Y, Lee SH, Kim DW, Jeon YK, Chung DH, Yang SC, Kim YT, Kim YW, Heo DS, Bang YJ.

Lung Cancer. 2012 Aug;77(2):460-3. doi: 10.1016/j.lungcan.2012.04.012. Epub 2012 May 21.

PubMed [citation]
PMID:
22622260

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505066.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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