NM_000059.4(BRCA2):c.517-11T>C AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Jul 27, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000113727.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.517-11T>C]

NM_000059.4(BRCA2):c.517-11T>C

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.517-11T>C
HGVS:
  • NC_000013.11:g.32326488T>C
  • NG_012772.3:g.16009T>C
  • NM_000059.4:c.517-11T>CMANE SELECT
  • LRG_293t1:c.517-11T>C
  • LRG_293:g.16009T>C
  • NC_000013.10:g.32900625T>C
  • NM_000059.3:c.517-11T>C
  • U43746.1:n.745-11T>C
Nucleotide change:
IVS6-11T>C
Links:
Breast Cancer Information Core (BIC) (BRCA2): 745-11&base_change=T to C; dbSNP: rs81002828
NCBI 1000 Genomes Browser:
rs81002828
Molecular consequence:
  • NM_000059.4:c.517-11T>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

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:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000147046Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Feb 20, 2004)
germlineclinical testing

SCV000297534Sharing Clinical Reports Project (SCRP)no assertion criteria providedBenign
(Aug 16, 2012)

History

germlineclinical testing

SCV000488972Counsylcriteria provided, single submitter
Uncertain significance
(Jul 27, 2016)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.

Mucaki EJ, Ainsworth P, Rogan PK.

Hum Mutat. 2011 Jul;32(7):735-42. doi: 10.1002/humu.21513. Epub 2011 May 5.

PubMed [citation]
PMID:
21523855

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147046.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Sharing Clinical Reports Project (SCRP), SCV000297534.1

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

From Counsyl, SCV000488972.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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