NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) AND Non-small cell lung cancer

Clinical significance:Pathogenic (Last evaluated: Mar 11, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000038407.4

Allele description [Variation Report for NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)]

NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)

Genes:
EGFR-AS1:EGFR antisense RNA 1 [Gene - HGNC]
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.2303G>T (p.Ser768Ile)
HGVS:
  • NC_000007.14:g.55181312G>T
  • NG_007726.3:g.167281G>T
  • NM_001346897.2:c.2168G>T
  • NM_001346898.2:c.2303G>T
  • NM_001346899.1:c.2168G>T
  • NM_001346900.2:c.2144G>T
  • NM_001346941.2:c.1502G>T
  • NM_005228.5:c.2303G>TMANE SELECT
  • NP_001333826.1:p.Ser723Ile
  • NP_001333827.1:p.Ser768Ile
  • NP_001333828.1:p.Ser723Ile
  • NP_001333829.1:p.Ser715Ile
  • NP_001333870.1:p.Ser501Ile
  • NP_005219.2:p.Ser768Ile
  • LRG_304t1:c.2303G>T
  • LRG_304:g.167281G>T
  • NC_000007.13:g.55249005G>T
  • NM_005228.3:c.2303G>T
  • NR_047551.1:n.1259C>A
  • P00533:p.Ser768Ile
  • c.2303G>T
Protein change:
S501I
Links:
UniProtKB: P00533#VAR_069502; dbSNP: rs121913465
NCBI 1000 Genomes Browser:
rs121913465
Molecular consequence:
  • NM_001346897.2:c.2168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346898.2:c.2303G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346899.1:c.2168G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346900.2:c.2144G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346941.2:c.1502G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005228.5:c.2303G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_047551.1:n.1259C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
16

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
SCV000062079Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Pathogenic
(Mar 11, 2011)
somaticclinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV000505071Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Jul 14, 2015)
somaticliterature only

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot provided1716not providednot providednot providedclinical testing
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

EGFR point mutation in non-small cell lung cancer is occasionally accompanied by a second mutation or amplification.

Yokoyama T, Kondo M, Goto Y, Fukui T, Yoshioka H, Yokoi K, Osada H, Imaizumi K, Hasegawa Y, Shimokata K, Sekido Y.

Cancer Sci. 2006 Aug;97(8):753-9.

PubMed [citation]
PMID:
16863509

Second-line treatments after first-line gefitinib therapy in advanced nonsmall cell lung cancer.

Wu JY, Shih JY, Yang CH, Chen KY, Ho CC, Yu CJ, Yang PC.

Int J Cancer. 2010 Jan 1;126(1):247-55. doi: 10.1002/ijc.24657.

PubMed [citation]
PMID:
19536777
See all PubMed Citations (9)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000062079.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided17not providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot provided17not provided16not provided

From Database of Curated Mutations (DoCM), SCV000505071.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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