NM_000059.4(BRCA2):c.517-11T>C AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000589738.3

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]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000694835Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Apr 18, 2016)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.

Beristain E, Martínez-Bouzas C, Guerra I, Viguera N, Moreno J, Ibañez E, Díez J, Rodríguez F, Mallabiabarrena G, Luján S, Gorostiaga J, De Pablo JL, Mendizabal JL, Tejada MI.

Breast Cancer Res Treat. 2007 Dec;106(2):255-62. Epub 2007 Jan 30.

PubMed [citation]
PMID:
17262179

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000694835.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: The c.517-11T>C variant affects a non-conserved intronic nucleotide. Mutation taster predicts benign outcome for this variant. 4/5 programs in Alamut predict no significant effect on RNA splicing sites. However, these predictions are not confirmed by experimental studies. This variant is found in 4/119782 control chromosomes in ExAC at a frequency of 0.0000334, which does not exceed maximal expected frequency of a pathogenic allele (0.0007503). This variant has been reported in one BC/OC patient without strong evidence for causality. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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