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NM_007294.3(BRCA1):c.5333-153A>G

Variation ID: Help
209248
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign
Last evaluated:
Jan 12, 2015
Number of submission(s):
2
Condition(s):
  • Breast-ovarian cancer, familial 1 [MedGen - OMIM]
  • Hereditary cancer-predisposing syndrome [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_007294.3(BRCA1):c.5333-153A>G

Allele ID:
206206
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
  • Chr17: 43049347 (on Assembly GRCh38)
  • Chr17: 41201364 (on Assembly GRCh37)
Other names:
  • IVS 21-153A>G
HGVS:
  • NG_005905.2:g.168637A>G
  • NM_007294.3:c.5333-153A>G
  • NC_000017.11:g.43049347T>C (GRCh38)
  • LRG_292t1:c.5333-153A>G
  • NC_000017.10:g.41201364T>C (GRCh37)
  • LRG_292:g.168637A>G
Links:
NCBI 1000 Genomes Browser:
rs8176305
Molecular consequence:
NM_007294.3:c.5333-153A>G: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.03215 (C)
  • 1000 Genomes Project 0.03215
  • The Genome Aggregation Database (gnomAD) 0.05189
  • Trans-Omics for Precision Medicine (TOPMed) 0.05026

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
Benign
(Jan 12, 2015)
reviewed by expert panel
curationgermline
    Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
    Study description
    SCV000244536.1
    Benign
    (Mar 31, 2015)
    criteria provided, single submitter
    clinical testing
    • Hereditary cancer-predisposing syndrome[MedGen]
    germline
      ColorSCV000683291.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermlinenot providednot provided
      Colornot providednot providedgermlinenot providednot providednot providednot provided
      Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)not providednot providedgermlinenot providednot providednot providedClass 1 not pathogenic based o…Full description
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Dec 24, 2018

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