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NM_007294.3(BRCA1):c.5175A>G (p.Glu1725=)

Variation ID: Help
136552
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_007294.3(BRCA1):c.5175A>G (p.Glu1725=)

Allele ID:
140255
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
  • Chr17: 43063351 (on Assembly GRCh38)
  • Chr17: 41215368 (on Assembly GRCh37)
Other names:
  • p.E1725E:GAA>GAG
HGVS:
  • NG_005905.2:g.154633A>G
  • NM_007294.3:c.5175A>G
  • NM_007297.3:c.5034A>G
  • NP_009225.1:p.Glu1725=
  • NP_009228.2:p.Glu1678=
  • NC_000017.11:g.43063351T>C (GRCh38)
  • LRG_292t1:c.5175A>G
  • NR_027676.1:n.5311A>G
  • NC_000017.10:g.41215368T>C (GRCh37)
  • LRG_292p1:p.Glu1725=
  • LRG_292:g.154633A>G
Links:
dbSNP: 191373374
NCBI 1000 Genomes Browser:
rs191373374
Molecular consequence:
  • NM_007294.3:c.5175A>G: synonymous variant SO:0001819
  • NR_027676.1:n.5311A>G: non-coding transcript variant SO:0001619
Allele frequency:
ExAC 0.00003 (C)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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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
Likely benign
(Jun 29, 2017)
reviewed by expert panel
curationgermline
    Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
    Study description
    SCV000578251.1
    Benign
    (Dec 28, 2015)
    criteria provided, single submitter
    clinical testing
    • Hereditary cancer-predisposing syndrome[MedGen]
    germline
      Color Genomics, Inc.SCV000683268.1
      Likely benign
      (Mar 17, 2017)
      criteria provided, single submitter
      clinical testinggermlineLaboratory Corporation of AmericaSCV000699217.1
      Benign
      (Mar 27, 2014)
      criteria provided, single submitter
      clinical testinggermline
        GeneDxSCV000167320.11
        Likely benign
        (Dec 18, 2014)
        criteria provided, single submitter
        clinical testing
        • Hereditary cancer-predisposing syndrome[MedGen]
        germline
          Ambry GeneticsSCV000214593.2
          Benign
          (Jul 31, 2017)
          criteria provided, single submitter
          clinical testinggermline
            InvitaeSCV000262479.4
            Likely benign
            (May 3, 2016)
            criteria provided, single submitter
            clinical testingunknownCounsylSCV000488591.1
            SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
            Total for all submittersnot provided1germline, unknownnot providednot provided
            Ambry Geneticsnot provided1germlinenot providednot providednot providednot provided
            Color Genomics, Inc.not providednot providedgermlinenot providednot providednot providednot provided
            Counsylnot providednot providedunknownnot providednot providednot provided
            Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)not providednot providedgermlinenot providednot providednot providedSynonymous substitution varian…Full description
            GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered lik…Full description
            Invitaenot providednot providedgermlinenot providednot providednot providednot provided
            Laboratory Corporation of Americanot providednot providedgermlinenot providednot providedVariant summary: The BRCA1 c.5…Full description
            SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

            Last Updated: Apr 12, 2018