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NM_000059.4(BRCA2):c.8332-2A>G AND Malignant tumor of breast

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001353698.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.8332-2A>G]

NM_000059.4(BRCA2):c.8332-2A>G

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.8332-2A>G
HGVS:
  • NC_000013.11:g.32370400A>G
  • NG_012772.3:g.59921A>G
  • NM_000059.4:c.8332-2A>GMANE SELECT
  • NM_001406719.1:c.8236-2A>G
  • NM_001406720.1:c.8332-2A>G
  • NM_001406721.1:c.3400-2A>G
  • NM_001406722.1:c.1915-2A>G
  • LRG_293t1:c.8332-2A>G
  • LRG_293:g.59921A>G
  • NC_000013.10:g.32944537A>G
  • NM_000059.3:c.8332-2A>G
Links:
dbSNP: rs587782774
NCBI 1000 Genomes Browser:
rs587782774
Molecular consequence:
  • NM_000059.4:c.8332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406719.1:c.8236-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406720.1:c.8332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406721.1:c.3400-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406722.1:c.1915-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000592183Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592183.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.8332-2A>G variant has not been previously identified in the literature nor by our laboratory and is of the type which is expected to cause the disorder. The c.8332-2A>G variant is located in the 3' splice region, and is predicted to cause abnormal splicing because the nucleotide substitution occurs in the invariant -1 and -2 positions of the splice consensus sequence. In summary, based on the information above this variant is Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024