NM_005228.5(EGFR):c.866C>T (p.Ala289Val) AND Neoplasm of brain

Clinical significance:Likely pathogenic (Last evaluated: Dec 26, 2014)

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:
RCV000423749.1

Allele description [Variation Report for NM_005228.5(EGFR):c.866C>T (p.Ala289Val)]

NM_005228.5(EGFR):c.866C>T (p.Ala289Val)

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.866C>T (p.Ala289Val)
HGVS:
  • NC_000007.14:g.55154129C>T
  • NG_007726.3:g.140098C>T
  • NM_001346897.2:c.731C>T
  • NM_001346898.2:c.866C>T
  • NM_001346899.2:c.731C>T
  • NM_001346900.2:c.707C>T
  • NM_001346941.2:c.89-1701C>T
  • NM_005228.5:c.866C>TMANE SELECT
  • NM_201282.2:c.866C>T
  • NM_201283.2:c.866C>T
  • NM_201284.2:c.866C>T
  • NP_001333826.1:p.Ala244Val
  • NP_001333827.1:p.Ala289Val
  • NP_001333828.1:p.Ala244Val
  • NP_001333829.1:p.Ala236Val
  • NP_005219.2:p.Ala289Val
  • NP_958439.1:p.Ala289Val
  • NP_958440.1:p.Ala289Val
  • NP_958441.1:p.Ala289Val
  • LRG_304:g.140098C>T
  • NC_000007.13:g.55221822C>T
Protein change:
A236V
Links:
dbSNP: rs149840192
NCBI 1000 Genomes Browser:
rs149840192
Molecular consequence:
  • NM_001346941.2:c.89-1701C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001346897.2:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346898.2:c.866C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346899.2:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346900.2:c.707C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005228.5:c.866C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201282.2:c.866C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201283.2:c.866C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201284.2:c.866C>T - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000505292Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Dec 26, 2014)
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

Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain.

Lee JC, Vivanco I, Beroukhim R, Huang JH, Feng WL, DeBiasi RM, Yoshimoto K, King JC, Nghiemphu P, Yuza Y, Xu Q, Greulich H, Thomas RK, Paez JG, Peck TC, Linhart DJ, Glatt KA, Getz G, Onofrio R, Ziaugra L, Levine RL, Gabriel S, et al.

PLoS Med. 2006 Dec;3(12):e485.

PubMed [citation]
PMID:
17177598
PMCID:
PMC1702556

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505292.1

#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

Support Center