NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg)

Variation ID: Help
9340
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg)

Allele ID:
24379
Variant type:
single nucleotide variant
Cytogenetic location:
13q13
Genomic location:
  • Chr13: 32363367 (on Assembly GRCh38)
  • Chr13: 32937504 (on Assembly GRCh37)
Other names:
  • 8393C>G
Protein change:
T2722R
HGVS:
  • NG_012772.3:g.52888C>G
  • NM_000059.3:c.8165C>G
  • NC_000013.11:g.32363367C>G (GRCh38)
  • NP_000050.2:p.Thr2722Arg
  • LRG_293t1:c.8165C>G
  • U43746.1:n.8393C>G
  • NC_000013.10:g.32937504C>G (GRCh37)
  • LRG_293p1:p.Thr2722Arg
  • LRG_293:g.52888C>G
Links:
NCBI 1000 Genomes Browser:
rs80359062
Molecular consequence:
NM_000059.3:c.8165C>G: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg)

GRCh37 Chr13:32937504
Called variantsPotential variants
Sample countno data0 of 40847

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
Pathogenic
(Aug 10, 2015)
reviewed by expert panel
(ENIGMA BRCA1/2 Classification Criteria (2015))
curationgermlineEvidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Study description
SCV000244480.1
Pathogenic
(Oct 21, 2014)
criteria provided, single submitter
(Ambry Autosomal Dominant and X-Linked criteria (9/4/14))
clinical testing
  • Hereditary cancer-predisposing syndrome[MedGen]
germline
    Ambry GeneticsSCV000213514.1
    Uncertain significance
    (Feb 20, 2013)
    no assertion criteria providedclinical testinggermline
      Breast Cancer Information Core (BIC) (BRCA2)SCV000147286.1
      Uncertain significance
      (Sep 1, 2002)
      no assertion criteria providedliterature onlygermlineOMIMSCV000030148.1
      Pathogenic
      (Nov 17, 2011)

      History

      no assertion criteria providedclinical testinggermline
        Sharing Clinical Reports Project (SCRP)SCV000054330.3
        not provided
        (Feb 1, 2013)
        no assertion providedliterature onlygermlineInvitaeSCV000073448.2
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot provided7germlineCaucasian; Central/Eastern European; Western EuropeanEastern And Western European
        Ambry Geneticsnot providednot providedgermlinenot providednot providednot providednot provided
        Breast Cancer Information Core (BIC) (BRCA2)not provided5germlineCaucasian; Central/Eastern European; Western EuropeanEastern And Western Europeannot providednot provided
        Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)not providednot providedgermlinenot providednot providedIARC class based on posterior …Full description
        Invitaenot providednot providedgermlinenot providednot providednot provided
        OMIMnot providednot providedgermlinenot providednot providednot provided
        Sharing Clinical Reports Project (SCRP)not provided2germlinenot providednot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Jul 25, 2016