NM_000059.3(BRCA2):c.475+3A>T AND Breast and/or ovarian cancer

Clinical significance:Uncertain significance (Last evaluated: Jun 11, 2003)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000735557.1

Allele description [Variation Report for NM_000059.3(BRCA2):c.475+3A>T]

NM_000059.3(BRCA2):c.475+3A>T

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.475+3A>T
Other names:
IVS5+3A>T
HGVS:
  • NC_000013.11:g.32326153A>T
  • NG_012772.3:g.15674A>T
  • NM_000059.3:c.475+3A>T
  • LRG_293t1:c.475+3A>T
  • LRG_293:g.15674A>T
  • NC_000013.10:g.32900290A>T
  • U43746.1:n.703+3A>T
Links:
Breast Cancer Information Core (BIC) (BRCA2): 703+3&base_change=A to T; dbSNP: rs81002795
NCBI 1000 Genomes Browser:
rs81002795
Molecular consequence:
  • NM_000059.3:c.475+3A>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Breast and/or ovarian cancer
Identifiers:
MedGen: CN221562

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000863695Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR)no assertion criteria providedUncertain significance
(Jun 11, 2003)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR), SCV000863695.1

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

Last Updated: Apr 1, 2021

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