NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg)

Variation ID: Help
17694
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg)

Allele ID:
32733
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.3
Genomic location:
  • Chr17: 43051071 (on Assembly GRCh38)
  • Chr17: 41203088 (on Assembly GRCh37)
Other names:
  • 5443T>G
Protein change:
M1775R
HGVS:
  • NG_005905.2:g.166913T>G
  • NM_007294.3:c.5324T>G
  • NC_000017.11:g.43051071A>C (GRCh38)
  • NP_009225.1:p.Met1775Arg
  • LRG_292t1:c.5324T>G
  • U14680.1:n.5443T>G
  • NR_027676.1:n.5460T>G
  • NC_000017.10:g.41203088A>C (GRCh37)
  • LRG_292p1:p.Met1775Arg
  • LRG_292:g.166913T>G
Links:
NCBI 1000 Genomes Browser:
rs41293463
Molecular consequence:
  • NM_007294.3:c.5324T>G: missense variant SO:0001583
  • NR_027676.1:n.5460T>G: non-coding transcript variant SO:0001619

Variant frequency in dbGaP Help

NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg)

GRCh37 Chr17:41203088
Called variantsPotential variants
Sample countno data0 of 44459

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 name
(Last submitted)
Submission 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

(Aug 17, 2015)

SCV000244398.1
Pathogenic
(Dec 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 Genetics

    (Feb 13, 2015)

    SCV000186351.2
    Pathogenic
    (Jun 18, 2014)
    criteria provided, single submitter
    (GeneDx Variant Classification (06012015))
    clinical testinggermline
      GeneDx

      (Feb 5, 2015)

      SCV000210213.1
      Pathogenic
      (Jul 31, 2015)
      criteria provided, single submitter
      (Invitae Variant Classification Sherloc (09022015))
      clinical testinggermlineInvitae

      (Jan 6, 2016)

      SCV000076944.5
      Uncertain significance
      (May 29, 2002)
      no assertion criteria providedclinical testinggermline
        Breast Cancer Information Core (BIC) (BRCA1)

        (Mar 28, 2014)

        SCV000145453.1
        Pathogenic
        (Apr 7, 2006)
        no assertion criteria providedliterature onlygermlineOMIM

        (Dec 30, 2010)

        SCV000039552.1
        Pathogenic
        (May 1, 2012)
        no assertion criteria providedclinical testinggermline
          Sharing Clinical Reports Project (SCRP)

          (Dec 30, 2013)

          SCV000053841.5
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot provided41germlineAfrican; African American; African, Native American; Latin American, Caribbean, Caribbean; Native American; Western EuropeanAfrican American; Latin American, Caribbean
          Ambry Geneticsnot providednot providedgermlinenot providednot providednot provided
          Breast Cancer Information Core (BIC) (BRCA1)not provided31germlineAfrican; African American; African, Native American; Latin American, Caribbean, Caribbean; Native American; Western EuropeanAfrican American; Latin American, Caribbeannot 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 providedThis variant is denoted BRCA1 …Full description
          Invitaenot providednot providedgermlinenot providednot providedThis sequence change replaces …Full description
          OMIMnot providednot providedgermlinenot providednot providednot provided
          Sharing Clinical Reports Project (SCRP)not provided10germlinenot providednot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
          Ambry Geneticsgermlinenot providedHereditary cancer-predisposing syndrome (unknown)not providednot providednot provided
          Breast Cancer Information Core (BIC) (BRCA1)germline12Breast-ovarian cancer, familial 1 (yes)not providednot providednot providednot provided
          Breast Cancer Information Core (BIC) (BRCA1)germline2Breast-ovarian cancer, familial 1 (yes)not providedAfrican Americannot providednot provided
          Breast Cancer Information Core (BIC) (BRCA1)germline1Breast-ovarian cancer, familial 1 (yes)not providedLatin American, Caribbeannot providednot provided
          Breast Cancer Information Core (BIC) (BRCA1)germline10Breast-ovarian cancer, familial 1 (yes)Africannot providednot providednot provided
          Breast Cancer Information Core (BIC) (BRCA1)germline1Breast-ovarian cancer, familial 1 (yes)African Americannot providednot providednot provided
          Breast Cancer Information Core (BIC) (BRCA1)germline1Breast-ovarian cancer, familial 1 (yes)African, Native Americannot providednot providednot provided
          Breast Cancer Information Core (BIC) (BRCA1)germline1Breast-ovarian cancer, familial 1 (yes)Latin American, Caribbean, Caribbeannot providednot providednot provided
          Breast Cancer Information Core (BIC) (BRCA1)germline1Breast-ovarian cancer, familial 1 (yes)Native Americannot providednot providednot provided
          Breast Cancer Information Core (BIC) (BRCA1)germline2Breast-ovarian cancer, familial 1 (yes)Western Europeannot providednot providednot provided
          Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)germlinenot providedBreast-ovarian cancer, familial 1 (unknown)not providednot providednot provided
          GeneDxgermlinenot providedFamilial cancer of breast (yes)not providednot providednot provided
          Invitaegermlinenot providedHereditary breast and ovarian cancer syndrome (unknown)not providednot providednot provided
          OMIMgermlinenot providedBreast-ovarian cancer, familial 1 (not provided)not providednot providedAglipay et al. (2006) showed that the M1775R mutation abrogated interaction of BRCA1 with BRAT1 (614506), which is required for activation of ATM (607…Full description
          Sharing Clinical Reports Project (SCRP)germline10Breast-ovarian cancer, familial 1 (not provided)not providednot providednot providednot provided

          Last Updated: Jan 31, 2016