NM_000465.3(BARD1):c.1670G>C (p.Cys557Ser)

Variation ID: Help
8045
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000465.3(BARD1):c.1670G>C (p.Cys557Ser)

Allele ID:
23084
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
  • Chr2: 214752454 (on Assembly GRCh38)
  • Chr2: 215617178 (on Assembly GRCh37)
Protein change:
C557S
HGVS:
  • NG_012047.2:g.62251G>C
  • NM_000465.3:c.1670G>C
  • NM_001282549.1:c.365-21946G>C
  • NC_000002.12:g.214752454C>G (GRCh38)
  • NP_000456.2:p.Cys557Ser
  • NR_104212.1:n.1663G>C
  • NC_000002.11:g.215617178C>G (GRCh37)
  • NM_000465.2:c.1670G>C
Links:
NCBI 1000 Genomes Browser:
rs28997576
Molecular consequence:
  • NM_000465.3:c.1670G>C: missense variant SO:0001583
  • NM_001282549.1:c.365-21946G>C: intron variant SO:0001627
  • NR_104212.1:n.1663G>C: non-coding transcript variant SO:0001619
Allele frequency:
  • GO-ESP 0.01668 (G)
  • GMAF 0.00800 (G)

Variant frequency in dbGaP Help

NM_000465.3(BARD1):c.1670G>C (p.Cys557Ser)

GRCh37 Chr2:215617178
Called variantsPotential variants
Sample count39079 of 480781467 of 40637

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Benign
(Sep 27, 2013)
criteria provided, single submitter
(GeneDx Variant Classification (06012015))
clinical testinggermline
    GeneDxSCV000167166.4
    Benign
    (Sep 18, 2014)
    criteria provided, single submitter
    (Ambry Autosomal Dominant and X-Linked criteria (9/4/14))
    clinical testing
    • Hereditary cancer-predisposing syndrome[MedGen]
    germline
      Ambry GeneticsSCV000212692.1
      Benign
      (Nov 10, 2015)
      criteria provided, single submitter
      (Invitae Variant Classification Sherloc (09022015))
      clinical testinggermline
        InvitaeSCV000262436.1
        Benign
        (Nov 18, 2014)
        criteria provided, single submitter
        (ACMG Guidelines, 2015)
        clinical testing
        • Hereditary cancer-predisposing syndrome[MedGen]
        germline
          Color Genomics, Inc.SCV000292104.1
          risk factor
          (Aug 1, 2005)
          no assertion criteria providedliterature only
          • Breast cancer, susceptibility to[MedGen]
          germlineOMIMSCV000028719.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot providednot providedgermlinenot providednot provided
          Ambry Geneticsnot providednot providedgermlinenot providednot providednot providednot provided
          Color Genomics, Inc.not providednot providedgermlinenot providednot providednot providednot provided
          GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered likā€¦Full description
          Invitaenot providednot providedgermlinenot providednot providednot providednot provided
          OMIMnot providednot providedgermlinenot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Aug 17, 2016