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NM_005228.4(EGFR):c.2389T>A (p.Cys797Ser)

Variation ID: Help
376342
Review status: Help
(0/4) no assertion provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
not provided
Last evaluated:
Mar 10, 2016
Number of submission(s):
1
Condition(s):
Non-small cell lung cancer[MeSH - MedGen - Human Phenotype Ontology]
See supporting ClinVar records

Allele(s) Help

NM_005228.4(EGFR):c.2389T>A (p.Cys797Ser)

Allele ID:
363221
Variant type:
single nucleotide variant
Cytogenetic location:
7p11.2
Genomic location:
  • Chr7: 55181398 (on Assembly GRCh38)
  • Chr7: 55249091 (on Assembly GRCh37)
Protein change:
C797S
HGVS:
  • NG_007726.3:g.167367T>A
  • NM_005228.3:c.2389T>A
  • NM_005228.4:c.2389T>A
  • NP_005219.2:p.Cys797Ser
  • NC_000007.14:g.55181398T>A (GRCh38)
  • LRG_304t1:c.2389T>A
  • NR_047551.1:n.1173A>T
  • NC_000007.13:g.55249091T>A (GRCh37)
  • LRG_304p1:p.Cys797Ser
  • LRG_304:g.167367T>A
Links:
NCBI 1000 Genomes Browser:
rs1057519861
Molecular consequence:
NM_005228.4:c.2389T>A: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Somatic

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
not provided
(Mar 10, 2016)
no assertion providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000505706.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Database of Curated Mutations (DoCM)not providednot providedsomaticnot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Nov 25, 2018

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