NM_000059.3(BRCA2):c.475+3A>T AND Breast-ovarian cancer, familial 2

Clinical significance:Pathogenic (Last evaluated: Oct 2, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000113646.2

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]
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
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
SCV000146935Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Dec 23, 2003)
germlineclinical testing

SCV000327082Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridgecriteria provided, single submitter
Pathogenic
(Oct 2, 2015)
germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing
Western European, Italiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146935.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European, Italian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000327082.3

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

Last Updated: Apr 1, 2021

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