NM_005228.5(EGFR):c.865_866delinsAT (p.Ala289Ile) AND Neoplasm of brain

Clinical significance:Likely pathogenic (Last evaluated: May 31, 2016)

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:
RCV000417429.1

Allele description [Variation Report for NM_005228.5(EGFR):c.865_866delinsAT (p.Ala289Ile)]

NM_005228.5(EGFR):c.865_866delinsAT (p.Ala289Ile)

Gene:
EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
7p11.2
Genomic location:
Preferred name:
NM_005228.5(EGFR):c.865_866delinsAT (p.Ala289Ile)
HGVS:
  • NC_000007.14:g.55154128_55154129delinsAT
  • NG_007726.3:g.140097_140098delinsAT
  • NM_001346897.2:c.730_731delinsAT
  • NM_001346898.2:c.865_866delinsAT
  • NM_001346899.2:c.730_731delinsAT
  • NM_001346900.2:c.706_707delinsAT
  • NM_001346941.2:c.89-1702_89-1701delinsAT
  • NM_005228.5:c.865_866delinsATMANE SELECT
  • NM_201282.2:c.865_866delinsAT
  • NM_201283.2:c.865_866delinsAT
  • NM_201284.2:c.865_866delinsAT
  • NP_001333826.1:p.Ala244Ile
  • NP_001333827.1:p.Ala289Ile
  • NP_001333828.1:p.Ala244Ile
  • NP_001333829.1:p.Ala236Ile
  • NP_005219.2:p.Ala289Ile
  • NP_958439.1:p.Ala289Ile
  • NP_958440.1:p.Ala289Ile
  • NP_958441.1:p.Ala289Ile
  • LRG_304:g.140097_140098delinsAT
  • NC_000007.13:g.55221821_55221822delinsAT
Protein change:
A236I
Links:
dbSNP: rs1057519887
NCBI 1000 Genomes Browser:
rs1057519887
Molecular consequence:
  • NM_001346941.2:c.89-1702_89-1701delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001346897.2:c.730_731delinsAT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346898.2:c.865_866delinsAT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346899.2:c.730_731delinsAT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346900.2:c.706_707delinsAT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005228.5:c.865_866delinsAT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201282.2:c.865_866delinsAT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201283.2:c.865_866delinsAT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201284.2:c.865_866delinsAT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neoplasm of brain
Synonyms:
Brain tumour; Brain neoplasm
Identifiers:
MONDO: MONDO:0021211; MeSH: D001932; MedGen: C0006118; Human Phenotype Ontology: HP:0030692

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000506070Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(May 31, 2016)
somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

Chang MT, Asthana S, Gao SP, Lee BH, Chapman JS, Kandoth C, Gao J, Socci ND, Solit DB, Olshen AB, Schultz N, Taylor BS.

Nat Biotechnol. 2016 Feb;34(2):155-63. doi: 10.1038/nbt.3391. Epub 2015 Nov 30.

PubMed [citation]
PMID:
26619011
PMCID:
PMC4744099

Details of each submission

From Database of Curated Mutations (DoCM), SCV000506070.1

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

Last Updated: Nov 20, 2021

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