BRCA2:c.9728C>T (p.Pro3243Leu) AND Breast-ovarian cancer, familial 2

Clinical significance:conflicting data from submitters, Likely benign(1);Uncertain significance(1) (Last evaluated: Feb 11, 2010)

Review status:

conflicting data from submitters (classified by multiple submitters)

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000031845.3

Allele description [Variation Report for BRCA2:c.9728C>T (p.Pro3243Leu)]

Note:
"observed in 22 previous families, with no deleterious mutations, this variant did not segregate with cancer in 1/1 families"
Gene:
BRCA2:breast cancer 2, early onset [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
BRCA2:c.9728C>T (p.Pro3243Leu)
HGVS:
  • NC_000013.11:g.32398241C>T
  • NG_012772.3:g.87762C>T
  • NM_000059.3:c.9728C>T
  • NP_000050.2:p.Pro3243Leu
  • LRG_293t1:c.9728C>T
  • LRG_293:g.87762C>T
  • LRG_293p1:p.Pro3243Leu
  • NC_000013.10:g.32972378C>T
  • U43746.1:n.9956C>T
Nucleotide change:
9956C>T
Protein change:
P3243L
Links:
dbSNP: 80359241
NCBI 1000 Genomes Browser:
rs80359241
Molecular consequence:
  • NM_000059.3:c.9728C>T: missense variant [Sequence Ontology: SO:0001583]
Observations:
3

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; 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
SCV000054453Sharing Clinical Reports Project (SCRP)classified by single submitterLikely benign
(Feb 11, 2010)
germlineclinical testing

SCV000147704Breast Cancer Information Core (BIC) (BRCA2)classified by single submitterUncertain significance
(Feb 20, 2004)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided2not providednot provided2not providedclinical testing
Asian, Philipinogermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054453.2

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot provided2not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147704.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1Asian, Philipino1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 30, 2014

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