NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=) AND Breast-ovarian cancer, familial 2

Clinical significance:Pathogenic (Last evaluated: Aug 6, 2012)

Review status:(2/4)2 stars out of maximum of 4 stars

classified by multiple submitters

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000031798.4

Allele description [Variation Report for NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=)]

Gene:
BRCA2:breast cancer 2, early onset [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=)
HGVS:
  • NC_000013.11:g.32379913G>A
  • NG_012772.3:g.69434G>A
  • NM_000059.3:c.9117G>A
  • NP_000050.2:p.Pro3039=
  • LRG_293t1:c.9117G>A
  • LRG_293:g.69434G>A
  • LRG_293p1:p.Pro3039Pro=
  • NC_000013.10:g.32954050G>A
  • U43746.1:n.9345G>A
  • p.P3039P
Nucleotide change:
9345G>A
Protein change:
P3039P
Links:
dbSNP: 28897756
NCBI 1000 Genomes Browser:
rs28897756
Molecular consequence:
  • NM_000059.3:c.9117G>A - synonymous variant - [Sequence Ontology: SO:0001588]
Observations:
22

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; See all synonyms [MedGen]
Identifiers:
MedGen: C2675520; OMIM: 612555; Orphanet: 145
Age of onset:
Variable
Prevalence:
  • 1-5 / 10 000 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. http://www.ncbi.nlm.nih.gov/books/NBK1247/

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000054406Sharing Clinical Reports Project (SCRP)classified by single submitterPathogenic
(Aug 6, 2012)
germlineclinical testing

SCV000147546Breast Cancer Information Core (BIC) (BRCA2)classified by single submitterPathogenic
(Feb 20, 2004)
germline, not providedclinical testing

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing
not providedgermlinenot provided8not providednot provided8not providedclinical testing
not providednot providedyes1not providednot providednot providednot providedclinical testing
Africangermlineyes2not providednot providednot providednot providedclinical testing
Ashkenazigermlineyes1not providednot providednot providednot providedclinical testing
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes4not providednot providednot providednot providedclinical testing
Western European, Italiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054406.4

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot provided8not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147546.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
3African2not providednot providedclinical testingnot provided
4Ashkenazi1not providednot providedclinical testingnot provided
5Caucasian1not providednot providedclinical testingnot provided
6Western European4not providednot providedclinical testingnot provided
7Western European, Italian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided
2not providedyesnot providednot providednot provided1not providednot providednot provided
3germlineyesnot providednot providednot provided2not providednot providednot provided
4germlineyesnot providednot providednot provided1not providednot providednot provided
5germlineyesnot providednot providednot provided1not providednot providednot provided
6germlineyesnot providednot providednot provided4not providednot providednot provided
7germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 14, 2014

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