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NM_001005862.2(ERBB2):c.836G>C (p.Gly279Ala)

Variation ID: Help
376205
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Last evaluated:
Dec 26, 2014
Number of submission(s):
1
Condition(s):
Neoplasm of the breast[MeSH - MedGen - Orphanet - Human Phenotype Ontology]
See supporting ClinVar records

Allele(s) Help

NM_001005862.2(ERBB2):c.836G>C (p.Gly279Ala)

Allele ID:
363084
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
  • Chr17: 39711952 (on Assembly GRCh38)
  • Chr17: 37868205 (on Assembly GRCh37)
Protein change:
G279A, G294A, G309A
HGVS:
  • NG_007503.1:g.28813G>C
  • NM_001005862.2:c.836G>C
  • NM_001289936.1:c.881G>C
  • NM_001289938.1:c.836G>C
  • NM_004448.3:c.926G>C
  • NP_001005862.1:p.Gly279Ala
  • NP_001276865.1:p.Gly294Ala
  • NP_001276867.1:p.Gly279Ala
  • NP_004439.2:p.Gly309Ala
  • NC_000017.11:g.39711952G>C (GRCh38)
  • LRG_724t1:c.836G>C
  • LRG_724t2:c.926G>C
  • LRG_724t3:c.836G>C
  • LRG_724t4:c.881G>C
  • NC_000017.10:g.37868205G>C (GRCh37)
  • LRG_724p1:p.Gly279Ala
  • LRG_724p2:p.Gly309Ala
  • LRG_724p3:p.Gly279Ala
  • LRG_724p4:p.Gly294Ala
  • LRG_724:g.28813G>C
Links:
NCBI 1000 Genomes Browser:
rs1057519787
Molecular consequence:
NM_001005862.2:c.836G>C: 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
Likely pathogenic
(Dec 26, 2014)
no assertion criteria providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
Study description
SCV000505284.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Database of Curated Mutations (DoCM)not providednot providedsomaticnot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Aug 31, 2018

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