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NM_000059.4(BRCA2):c.8954-2A>C 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:
RCV001353886.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.8954-2A>C]

NM_000059.4(BRCA2):c.8954-2A>C

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.8954-2A>C
HGVS:
  • NC_000013.11:g.32379748A>C
  • NG_012772.3:g.69269A>C
  • NM_000059.4:c.8954-2A>CMANE SELECT
  • NM_001406719.1:c.8858-2A>C
  • NM_001406720.1:c.8954-53A>C
  • NM_001406721.1:c.4022-2A>C
  • NM_001406722.1:c.2537-2A>C
  • LRG_293t1:c.8954-2A>C
  • LRG_293:g.69269A>C
  • NC_000013.10:g.32953885A>C
  • NM_000059.3:c.8954-2A>C
Links:
dbSNP: rs1135401928
NCBI 1000 Genomes Browser:
rs1135401928
Molecular consequence:
  • NM_001406720.1:c.8954-53A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000059.4:c.8954-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406719.1:c.8858-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406721.1:c.4022-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406722.1:c.2537-2A>C - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000592242Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

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), SCV000592242.2

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

Description

The BRCA2 c.8954-2A>C was not identified in the literature, nor was it identified in any of the following databases: dbSNP, Exome Variant Server ESP Project, HGMD, UMD, LOVD, and COSMIC. This variant is predicted to cause abnormal splicing because the nucleotide substitution occurs in the invariant -2 position of the 3' splice consensus sequence. In addition, four in-silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, HumanSpliceFinder) predict a greater than 10% difference in splicing, and Myriad classifies this variant as “suspected deleterious” (personal communication). This is the type of variant expected to cause hereditary breast and ovarian cancer. In summary, based on the above information, this variant is classified as pathogenic.

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

Last Updated: Sep 29, 2024