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NM_000059.4(BRCA2):c.7976+12G>A AND Malignant tumor of breast

Germline classification:
Likely benign (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:
RCV001353771.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.7976+12G>A]

NM_000059.4(BRCA2):c.7976+12G>A

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.7976+12G>A
Other names:
IVS17+12G/A
HGVS:
  • NC_000013.11:g.32362705G>A
  • NG_012772.3:g.52226G>A
  • NM_000059.4:c.7976+12G>AMANE SELECT
  • LRG_293t1:c.7976+12G>A
  • LRG_293:g.52226G>A
  • NC_000013.10:g.32936842G>A
  • NM_000059.3:c.7976+12G>A
  • NM_000059.4:c.7976+12G>A
  • U43746.1:n.8204+12G>A
Links:
Breast Cancer Information Core (BIC) (BRCA2): 8204+12&base_change=G to A; dbSNP: rs81002827
NCBI 1000 Genomes Browser:
rs81002827
Molecular consequence:
  • NM_000059.4:c.7976+12G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000592161Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Likely benignunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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), SCV000592161.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.7976+12G>A variant has been previously identified in the literature (Wagner 1999). It is listed in dbSNP database coming from a “clinical source” (ID#: rs81002827) however no frequency information were provided. This variant is located in the 5' splice region but does not affect the positions +3 to +6 that are part of the splicing consensus sequence that sometimes affect splicing. In summary, the clinical significance of this variant cannot be determined with certainty at this time, although we would lean towards a more benign role for this variant. This variant is classified as Predicted Benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024