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NM_005228.4(EGFR):c.2270A>T (p.Lys757Met)

Variation ID: Help
45242
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Apr 15, 2011
Number of submission(s):
1
See supporting ClinVar records

Allele(s) Help

NM_005228.4(EGFR):c.2270A>T (p.Lys757Met)

Allele ID:
54409
Variant type:
single nucleotide variant
Cytogenetic location:
7p11.2
Genomic location:
  • Chr7: 55174807 (on Assembly GRCh38)
  • Chr7: 55242500 (on Assembly GRCh37)
Protein change:
K757M
HGVS:
  • NG_007726.3:g.160776A>T
  • NM_005228.4:c.2270A>T
  • NP_005219.2:p.Lys757Met
  • NC_000007.14:g.55174807A>T (GRCh38)
  • LRG_304t1:c.2270A>T
  • NC_000007.13:g.55242500A>T (GRCh37)
  • NM_005228.3:c.2270A>T
  • LRG_304p1:p.Lys757Met
  • LRG_304:g.160776A>T
Links:
NCBI 1000 Genomes Browser:
rs397517102
Molecular consequence:
NM_005228.4:c.2270A>T: 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
Uncertain significance
(Apr 15, 2011)
criteria provided, single submitter
clinical testingsomatic
    Laboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000062070.3
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine11somaticnot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Oct 13, 2018

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