NM_000059.4(BRCA2):c.6841+80_6841+83del 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:
4 submissions [Details]
Record status:
current
Accession:
RCV000113661.6

Allele description [Variation Report for NM_000059.4(BRCA2):c.6841+80_6841+83del]

NM_000059.4(BRCA2):c.6841+80_6841+83del

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.6841+80_6841+83del
Other names:
IVS11+80del4; IVS11+80delTTAA; IVS11+79del4; IVS 11+78del4
HGVS:
  • NC_000013.11:g.32341276_32341279del
  • NG_012772.3:g.30797_30800del
  • NG_012772.3:g.30797_30800delTTAA
  • NM_000059.3:c.6841+80_6841+83del
  • NM_000059.4:c.6841+80_6841+83delMANE SELECT
  • LRG_293t1:c.6841+80_6841+83del
  • LRG_293:g.30797_30800del
  • NC_000013.10:g.32915413_32915416del
  • NC_000013.10:g.32915413_32915416delTTAA
  • NG_012772.3:g.30797_30800delTTAA
  • NM_000059.3:c.6841+78_6841+81delAATT
  • NM_000059.3:c.6841+80_6841+83delTTAA
  • U43746.1:n.7069+79_7069+82del4
  • U43746.1:n.7069+80_7069+83delTTAA
Links:
Breast Cancer Information Core (BIC) (BRCA2): 7069+79&base_change=del 4; Breast Cancer Information Core (BIC) (BRCA2): 7069+80&base_change=del TTAA; dbSNP: rs11571661
NCBI 1000 Genomes Browser:
rs11571661
Molecular consequence:
  • NM_000059.3:c.6841+80_6841+83del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000059.4:c.6841+80_6841+83del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
225

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000146954Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Dec 17, 2010)
germlineclinical testing

SCV000245037Evidence-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,

SCV000743324Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensuscriteria provided, single submitter
Benign
(Oct 9, 2014)
germlineclinical testing

Citation Link,

SCV000746281Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Benign
(Dec 3, 2017)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes225not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146954.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided224not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided224not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000245037.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.38 (Asian), 0.18 (African), 0.29 (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, SCV000743324.1

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

From Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000746281.1

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

Last Updated: Nov 20, 2021

Support Center