NM_000059.3(BRCA2):c.9658C>T (p.Pro3220Ser) AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000114149.1

Allele description [Variation Report for NM_000059.3(BRCA2):c.9658C>T (p.Pro3220Ser)]

NM_000059.3(BRCA2):c.9658C>T (p.Pro3220Ser)

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.9658C>T (p.Pro3220Ser)
HGVS:
  • NC_000013.11:g.32398171C>T
  • NG_012772.3:g.87692C>T
  • NM_000059.3:c.9658C>T
  • NP_000050.2:p.Pro3220Ser
  • LRG_293t1:c.9658C>T
  • LRG_293:g.87692C>T
  • LRG_293p1:p.Pro3220Ser
  • NC_000013.10:g.32972308C>T
  • U43746.1:n.9886C>T
Protein change:
P3220S
Links:
dbSNP: 80359236
NCBI 1000 Genomes Browser:
rs80359236
Molecular consequence:
  • NM_000059.3:c.9658C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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; Orphanet: 145; OMIM: 612555
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)
OriginMethodCitations
SCV000147694Breast Cancer Information Core (BIC) (BRCA2)classified by single submitterUncertain significancegermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147694.1

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

Last Updated: Jun 8, 2015