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NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly)

Variation ID: Help
17661
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly)

Allele ID:
32700
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.3
Genomic location:
  • Chr17: 43106487 (on Assembly GRCh38)
  • Chr17: 41258504 (on Assembly GRCh37)
Other names:
  • p.C61G:TGT>GGT
  • 300T>G
Protein change:
C61G
HGVS:
  • NG_005905.2:g.111497T>G
  • NM_007294.3:c.181T>G
  • NM_007299.3:c.181T>G
  • NM_007300.3:c.181T>G
  • NP_009225.1:p.Cys61Gly
  • NP_009230.2:p.Cys61Gly
  • NP_009231.2:p.Cys61Gly
  • NC_000017.11:g.43106487A>C (GRCh38)
  • LRG_292t1:c.181T>G
  • U14680.1:n.300T>G
  • NR_027676.1:n.342T>G
  • NC_000017.10:g.41258504A>C (GRCh37)
  • P38398:p.Cys61Gly
  • LRG_292p1:p.Cys61Gly
  • LRG_292:g.111497T>G
Links:
NCBI 1000 Genomes Browser:
rs28897672
Molecular consequence:
  • NM_007294.3:c.181T>G: missense variant SO:0001583
  • NR_027676.1:n.342T>G: non-coding transcript variant SO:0001619
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00007
  • The Genome Aggregation Database (gnomAD), exomes 0.00003
  • Trans-Omics for Precision Medicine (TOPMed) 0.00002

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

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
curationgermlineEvidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Study description
SCV000244308.1
Pathogenic
(Nov 3, 2014)
criteria provided, single submitter
clinical testinggermline
    Michigan Medical Genetics Laboratories,University of MichiganSCV000195877.1
    Pathogenic
    (Feb 11, 2016)
    criteria provided, single submitter
    clinical testing
    • Hereditary breast and ovarian cancer syndrome (Autosomal dominant inheritance)[MeSH | MedGen | Orphanet | OMIM]
    germlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000271313.3
    Pathogenic
    (Dec 30, 2014)
    criteria provided, single submitter
    clinical testing
    • Hereditary cancer-predisposing syndrome[MedGen]
    germline
      ColorSCV000292141.1
      Pathogenic
      (Feb 18, 2015)
      criteria provided, single submitter
      clinical testinggermlineQuest Diagnostics Nichols Institute San Juan CapistranoSCV000296283.2
      Pathogenic
      (Aug 1, 2018)
      criteria provided, single submitter
      clinical testinggermline
        GeneKor MSA,SCV000296762.3
        Pathogenic
        (Oct 2, 2015)
        criteria provided, single submitter
        clinical testinggermline
          Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of CambridgeSCV000325150.3
          Pathogenic
          (Apr 20, 2017)
          criteria provided, single submitter
          clinical testinggermline
            Department of Pathology and Molecular Medicine,Queen's University - The Canadian Open Genetics Repository (COGR)SCV000588026.1
            Pathogenic
            (Jun 15, 2012)
            criteria provided, single submitter
            clinical testinggermlineDepartment of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)SCV000591246.1
            Pathogenic
            (Dec 2, 2016)
            criteria provided, single submitter
            clinical testinggermline
              Genetic Services Laboratory, University of ChicagoSCV000593687.1
              Pathogenic
              (Nov 29, 2016)
              criteria provided, single submitter
              clinical testinggermline
                ARUP Laboratories, Molecular Genetics and GenomicsSCV000602706.1
                Pathogenic
                (Nov 12, 2015)
                criteria provided, single submitter
                clinical testingunknownCounsylSCV000677634.1
                Pathogenic
                (Jul 12, 2017)
                criteria provided, single submitter
                clinical testing
                • Hereditary cancer-predisposing syndrome[MedGen]
                germline
                  Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.SCV000679704.1
                  Pathogenic
                  (Aug 24, 2017)
                  criteria provided, single submitter
                  clinical testinggermlineIntegrated Genetics/Laboratory Corporation of AmericaSCV000698888.1
                  Pathogenic
                  (Jun 25, 2018)
                  criteria provided, single submitter
                  clinical testinggermlineInvitae,SCV000075610.11
                  Pathogenic
                  (Feb 25, 2018)
                  criteria provided, single submitter
                  clinical testing
                  • Hereditary cancer-predisposing syndrome[MedGen]
                  germlineAmbry GeneticsSCV000186957.5
                  Pathogenic
                  (Feb 8, 2018)
                  criteria provided, single submitter
                  clinical testinggermline
                    GeneDxSCV000210067.12
                    Pathogenic
                    (May 13, 2015)
                    criteria provided, single submitter
                    clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000230340.5
                    Pathogenic
                    (Feb 23, 2017)
                    criteria provided, single submitter
                    clinical testinggermline
                      Baylor Miraca Genetics Laboratories,
                      Study description
                      SCV000540933.1
                      Pathogenic
                      (Jul 1, 2015)
                      criteria provided, single submitter
                      clinical testinggermline
                        Department of Medical Genetics,Oslo University HospitalSCV000564349.1
                        Pathogenic
                        (Jul 2, 2018)
                        criteria provided, single submitter
                        clinical testingunknown
                          Mendelics Analise GenomicaSCV000839313.1
                          Pathogenic
                          (May 25, 2017)
                          criteria provided, single submitter
                          clinical testinggermline
                            Human Genome Sequencing Center Clinical Lab,Baylor College of MedicineSCV000839890.1
                            Pathogenic
                            (Jan 31, 2014)
                            no assertion criteria providedresearchgermline
                              Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)SCV000587024.1
                              Pathogenic
                              (Sep 18, 2013)
                              no assertion criteria providedclinical testinggermline
                                Sharing Clinical Reports Project (SCRP)SCV000109295.5
                                Pathogenic
                                (Jun 1, 2000)
                                no assertion criteria providedliterature onlyunknownOMIMSCV000039517.3
                                Pathogenicno assertion criteria providedclinical testinggermline
                                  Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen - VKGL Data-share ConsensusSCV000733679.1
                                  Pathogenic
                                  (Dec 7, 2016)
                                  no assertion criteria providedclinical testingunknown
                                    Mayo Clinic Genetic Testing Laboratories,Mayo ClinicSCV000778779.1
                                    Pathogenicno assertion criteria provided
                                    researchgermlineLaboratory of Genomics and Molecular Biology,A. C. Camargo Cancer Center
                                    Study description
                                    SCV000492470.1
                                    Pathogenic
                                    (Apr 6, 2016)
                                    no assertion criteria providedclinical testingunknown
                                      Centre for Mendelian Genomics,University Medical Centre Ljubljana
                                      Study description
                                      SCV000492590.1
                                      not providedno assertion providedclinical testinggermline, not provided
                                        Breast Cancer Information Core (BIC) (BRCA1)SCV000144574.2

                                        Somatic

                                        Clinical significance
                                        (Last evaluated)
                                        Review status
                                        (Assertion method)
                                        Collection methodCondition(s)
                                        (Mode of inheritance)
                                        OriginCitationsSubmitter - Study nameSubmission accession
                                        not providedno assertion providedclinical testingsomatic
                                          Breast Cancer Information Core (BIC) (BRCA1)SCV000144574.2
                                          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
                                          Total for all submitters876330germline, not provided, somatic, unknown
                                          Ashkenazi; Austrian; Caucasian; Caucasian Non Hispanic; Central/Eastern European; Czech; German, Uruguayan; Latvian; Native American; Western European; Western European, Ashkenazi; Western European, Central/Eastern European; Western European, Swedish, Englishranian, Norwegian, Belgian; Western Europeanan, Central/Eastern European; Western, Central/Eastern European
                                          American; Austria; Canada; Central/Eastern European; Czech Republic; Denmark; France; Germany; Italy; Latvia; Native American; Near Eastern Mid East; Sweden; Western European
                                          ARUP Laboratories, Molecular Genetics and Genomicsnot providednot providedgermlinenot providednot providednot providednot provided
                                          Ambry Geneticsnot provided1germlinenot providednot providedLines of evidence used in supp…Full description
                                          Baylor Miraca Genetics Laboratories,not provided1germlinenot providednot providednot providednot provided
                                          Breast Cancer Information Core (BIC) (BRCA1)not provided252germline, not provided, somatic
                                          Ashkenazi; Austrian; Caucasian; Caucasian Non Hispanic; Central/Eastern European; Czech; German, Uruguayan; Latvian; Native American; Western European; Western European, Ashkenazi; Western European, Central/Eastern European; Western European, Swedish, Englishranian, Norwegian, Belgian; Western Europeanan, Central/Eastern European; Western, Central/Eastern European
                                          American; Austria; Canada; Central/Eastern European; Czech Republic; Denmark; France; Germany; Italy; Latvia; Native American; Near Eastern Mid East; Sweden; Western European
                                          not provided
                                          Centre for Mendelian Genomics,University Medical Centre Ljubljananot providednot providedunknownnot providednot providednot providednot provided
                                          Colornot providednot providedgermlinenot providednot providednot providednot provided
                                          Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge875not providedgermlinenot providednot providednot providednot provided
                                          Counsylnot providednot providedunknownnot providednot providednot provided
                                          Department of Medical Genetics,Oslo University Hospitalnot provided5germlinenot providednot providednot providednot provided
                                          Department of Pathology and Laboratory Medicine,Sinai Health Systemnot providednot providedgermlinenot providednot providednot provided
                                          Department of Pathology and Molecular Medicine,Queen's Universitynot providednot providedgermlinenot providednot providednot providednot provided
                                          Diagnostic Laboratory, Department of Genetics,University Medical Center Groningennot providednot providedgermlinenot providednot providednot providednot provided
                                          EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided3germlinenot providednot providednot provided
                                          Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)not providednot providedgermlinenot providednot providedIARC class based on posterior …Full description
                                          GeneDxnot providednot providedgermlinenot providednot providednot providedThis pathogenic variant is den…Full description
                                          GeneKor MSA,not providednot providedgermlinenot providednot providednot providednot provided
                                          Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
                                          Human Genome Sequencing Center Clinical Lab,Baylor College of Medicinenot providednot providedgermlinenot providednot providednot providedThe c.181T>G (p.Cys61Gly) vari…Full description
                                          Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.not providednot providedgermlinenot providednot providednot providednot provided
                                          Integrated Genetics/Laboratory Corporation of Americanot providednot providedgermlinenot providednot providedVariant summary: The BRCA1 c.1…Full description
                                          Invitae,not providednot providedgermlinenot providednot providedThis sequence change replaces …Full description
                                          Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine11germlinenot providednot providedThe p.Cys61Gly variant in BRCA…Full description
                                          Laboratory of Genomics and Molecular Biology,A. C. Camargo Cancer Centernot providednot providedgermlinenot providednot providednot providednot provided
                                          Mayo Clinic Genetic Testing Laboratories,Mayo Clinicnot providednot providedunknownnot providednot providednot providednot provided
                                          Mendelics Analise Genomicanot providednot providedunknownnot providednot providednot providednot provided
                                          Michigan Medical Genetics Laboratories,University of Michigannot providednot providedgermlinenot providednot providednot providednot provided
                                          OMIMnot providednot providedunknownnot providednot providednot provided
                                          Quest Diagnostics Nichols Institute San Juan Capistranonot providednot providedgermlinenot providednot providednot provided
                                          Research Molecular Genetics Laboratory,Women's College Hospital, University of Torontonot providednot providedgermlinenot providednot providednot providednot provided
                                          Sharing Clinical Reports Project (SCRP)not provided67germlinenot providednot providednot providednot provided
                                          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

                                          Last Updated: Jan 22, 2019

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