NM_000059.3(BRCA2):c.9648+84G>A AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Dec 17, 2010)

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:
RCV000114143.1

Allele description [Variation Report for NM_000059.3(BRCA2):c.9648+84G>A]

NM_000059.3(BRCA2):c.9648+84G>A

Gene:
BRCA2:BRCA2, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.9648+84G>A
Other names:
IVS26+84G/A; IVS26+84G>A
HGVS:
  • NC_000013.11:g.32397128G>A
  • NG_012772.3:g.86649G>A
  • NM_000059.3:c.9648+84G>A
  • LRG_293t1:c.9648+84G>A
  • LRG_293:g.86649G>A
  • NC_000013.10:g.32971265G>A
  • U43746.1:n.9876+84G>A
Links:
Breast Cancer Information Core (BIC) (BRCA2): 9876+84&base_change=G to A; dbSNP: 81002832
GMAF:
0.0004(A), 81002832
NCBI 1000 Genomes Browser:
rs81002832
Molecular consequence:
  • NM_000059.3:c.9648+84G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
4

Condition(s)

Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:
MedGen: C2675520; Orphanet: 145; OMIM: 612555
Age of onset:
All ages
Prevalence:
  • 1-9 / 100 000 Orphanet: 145
  • Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. https://www.ncbi.nlm.nih.gov/books/NBK1247

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000147687Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Dec 17, 2010)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing
Asiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147687.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
2Asian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 7, 2017