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NM_007294.3(BRCA1):c.3969_3970delAA (p.Gln1323Hisfs)

Variation ID: Help
142938
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 8, 2016
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.3969_3970delAA (p.Gln1323Hisfs)

Allele ID:
152652
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
  • Chr17: 43091561 - 43091562 (on Assembly GRCh38)
  • Chr17: 41243578 - 41243579 (on Assembly GRCh37)
HGVS:
  • NG_005905.2:g.126422_126423delAA
  • NM_007294.3:c.3969_3970delAA
  • NM_007298.3:c.788-530_788-529delAA
  • NP_009225.1:p.Gln1323Hisfs
  • NC_000017.11:g.43091561_43091562delTT (GRCh38)
  • LRG_292t1:c.3969_3970delAA
  • NR_027676.1:n.4105_4106delAA
  • NC_000017.10:g.41243578_41243579delTT (GRCh37)
  • LRG_292p1:p.Gln1323Hisfs
  • LRG_292:g.126422_126423delAA
Links:
dbSNP: 587782834
NCBI 1000 Genomes Browser:
rs587782834
Molecular consequence:
  • NM_007294.3:c.3969_3970delAA: frameshift variant SO:0001589
  • NM_007298.3:c.788-530_788-529delAA: intron variant SO:0001627
  • NR_027676.1:n.4105_4106delAA: non-coding transcript variant SO:0001619

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
Pathogenic
(Sep 8, 2016)
reviewed by expert panel
curationgermline
    Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
    Study description
    SCV000300050.2
    Pathogenic
    (Mar 12, 2014)
    criteria provided, single submitter
    clinical testing
    • Hereditary cancer-predisposing syndrome[MedGen]
    germline
      Ambry GeneticsSCV000187511.4
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot provided1germlinenot providednot provided
      Ambry Geneticsnot provided1germlinenot providednot providednot providedAlterations resulting in prema…Full description
      Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)not providednot providedgermlinenot providednot providednot providedVariant allele predicted to en…Full description
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Nov 24, 2017