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NM_007294.3(BRCA1):c.5075-1G>A AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Pathogenic (Last evaluated: Jan 31, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000496384.1

Allele description

NM_007294.3(BRCA1):c.5075-1G>A

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.5075-1G>A
Other names:
IVS17-1G>A
HGVS:
  • NC_000017.11:g.43063952C>T
  • NG_005905.2:g.154032G>A
  • NM_007294.3:c.5075-1G>A
  • NM_007297.4:c.4934-1G>A
  • NM_007298.3:c.1763-1G>A
  • NM_007299.4:c.1763-1G>A
  • NM_007300.4:c.5138-1G>A
  • LRG_292t1:c.5075-1G>A
  • LRG_292:g.154032G>A
  • NC_000017.10:g.41215969C>T
  • U14680.1:n.5194-1G>A
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5194-1&base_change=G to A; dbSNP: rs1800747
NCBI 1000 Genomes Browser:
rs1800747
Molecular consequence:
  • NM_007294.3:c.5075-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007297.4:c.4934-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007298.3:c.1763-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007299.4:c.1763-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007300.4:c.5138-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer
Identifiers:
MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000587455Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)no assertion criteria providedPathogenic
(Jan 31, 2014)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587455.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 18, 2019