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NM_000059.4(BRCA2):c.516+1G>T AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (4 submissions)
Last evaluated:
Jul 28, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000258288.13

Allele description [Variation Report for NM_000059.4(BRCA2):c.516+1G>T]

NM_000059.4(BRCA2):c.516+1G>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.516+1G>T
HGVS:
  • NC_000013.11:g.32326283G>T
  • NG_012772.3:g.15804G>T
  • NM_000059.4:c.516+1G>TMANE SELECT
  • NM_001406719.1:c.516+1G>T
  • NM_001406720.1:c.516+1G>T
  • NM_001406721.1:c.516+1G>T
  • NM_001406722.1:c.147+1G>T
  • LRG_293t1:c.516+1G>T
  • LRG_293:g.15804G>T
  • NC_000013.10:g.32900420G>T
  • NM_000059.3:c.516+1G>T
Links:
dbSNP: rs397507762
NCBI 1000 Genomes Browser:
rs397507762
Molecular consequence:
  • NM_000059.4:c.516+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406719.1:c.516+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406720.1:c.516+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406721.1:c.516+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406722.1:c.147+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
24

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000327149Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)		Pathogenic
(Oct 2, 2015) 		germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf,

Citation Link,

SCV000733212Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Pathogenicgermlineclinical testing

SCV000743242Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus
criteria provided, single submitter

(ACGS Guidelines, 2013)		Pathogenic
(Jul 28, 2017) 		germlineclinical testing

Citation Link,

SCV000744384Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus
criteria provided, single submitter

(ACGS Guidelines, 2013)		Pathogenic
(Sep 21, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot provided24not providednot providednot providedclinical testing

Details of each submission

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000327149.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided24not provided

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733212.1

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743242.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744384.1

#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: Oct 26, 2024