NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Dec 10, 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:
RCV000038400.2

Allele description [Variation Report for NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr)]

NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr)

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.2281G>T (p.Asp761Tyr)
HGVS:
  • NC_000007.14:g.55174818G>T
  • NG_007726.3:g.160787G>T
  • NM_001346897.2:c.2146G>T
  • NM_001346898.2:c.2281G>T
  • NM_001346899.1:c.2146G>T
  • NM_001346900.2:c.2122G>T
  • NM_001346941.2:c.1480G>T
  • NM_005228.5:c.2281G>TMANE SELECT
  • NP_001333826.1:p.Asp716Tyr
  • NP_001333827.1:p.Asp761Tyr
  • NP_001333828.1:p.Asp716Tyr
  • NP_001333829.1:p.Asp708Tyr
  • NP_001333870.1:p.Asp494Tyr
  • NP_005219.2:p.Asp761Tyr
  • LRG_304t1:c.2281G>T
  • LRG_304:g.160787G>T
  • NC_000007.13:g.55242511G>T
  • NM_005228.3:c.2281G>T
  • c.2281G>T
Protein change:
D494Y
Links:
dbSNP: rs121913418
NCBI 1000 Genomes Browser:
rs121913418
Molecular consequence:
  • NM_001346897.2:c.2146G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346898.2:c.2281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346899.1:c.2146G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346900.2:c.2122G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346941.2:c.1480G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005228.5:c.2281G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000062072Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicineno assertion criteria providedUncertain significance
(Dec 10, 2008)
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

Novel D761Y and common secondary T790M mutations in epidermal growth factor receptor-mutant lung adenocarcinomas with acquired resistance to kinase inhibitors.

Balak MN, Gong Y, Riely GJ, Somwar R, Li AR, Zakowski MF, Chiang A, Yang G, Ouerfelli O, Kris MG, Ladanyi M, Miller VA, Pao W.

Clin Cancer Res. 2006 Nov 1;12(21):6494-501.

PubMed [citation]
PMID:
17085664

The impact of epidermal growth factor receptor gene status on gefitinib-treated Japanese patients with non-small-cell lung cancer.

Ichihara S, Toyooka S, Fujiwara Y, Hotta K, Shigematsu H, Tokumo M, Soh J, Asano H, Ichimura K, Aoe K, Aoe M, Kiura K, Shimizu K, Date H, Shimizu N.

Int J Cancer. 2007 Mar 15;120(6):1239-47.

PubMed [citation]
PMID:
17192902

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000062072.2

#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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