NM_000059.4(BRCA2):c.681+56C>T AND Breast-ovarian cancer, familial 2

Clinical significance:Benign (Last evaluated: Jan 12, 2015)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000114007.5

Allele description [Variation Report for NM_000059.4(BRCA2):c.681+56C>T]

NM_000059.4(BRCA2):c.681+56C>T

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.681+56C>T
Other names:
IVS8+56C>T; IVS 8+56C>T
HGVS:
  • NC_000013.11:g.32329548C>T
  • NG_012772.3:g.19069C>T
  • NM_000059.3:c.681+56C>T
  • NM_000059.4:c.681+56C>TMANE SELECT
  • LRG_293t1:c.681+56C>T
  • LRG_293:g.19069C>T
  • NC_000013.10:g.32903685C>T
  • U43746.1:n.909+56C>T
Links:
Breast Cancer Information Core (BIC) (BRCA2): 909+56&base_change=C to T; dbSNP: rs2126042
NCBI 1000 Genomes Browser:
rs2126042
Molecular consequence:
  • NM_000059.3:c.681+56C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000059.4:c.681+56C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
148

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
SCV000147471Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Apr 12, 1999)
germlineclinical testing

SCV000244988Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Benign
(Jan 12, 2015)
germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015),

Citation Link,

SCV000743249Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensuscriteria provided, single submitter
Benign
(Oct 9, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes147not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
African, Asian, Oceanangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147471.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided140not providednot providedclinical testingnot provided
3not provided6not providednot providedclinical testingnot provided
4African, Asian, Oceanan1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided140not providednot providednot provided
3germlineyesnot providednot providednot provided6not providednot providednot provided
4germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244988.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.07343 (Asian), 0.313 (African), 0.2018 (European), derived from 1000 genomes (2012-04-30).

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743249.1

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

Last Updated: Nov 10, 2021

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