U.S. flag

An official website of the United States government

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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 2, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000258414.11

Allele description [Variation Report for NM_000059.4(BRCA2):c.516+2T>A]

NM_000059.4(BRCA2):c.516+2T>A

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+2T>A
HGVS:
  • NC_000013.11:g.32326284T>A
  • NG_012772.3:g.15805T>A
  • NM_000059.4:c.516+2T>AMANE SELECT
  • NM_001406719.1:c.516+2T>A
  • NM_001406720.1:c.516+2T>A
  • NM_001406721.1:c.516+2T>A
  • NM_001406722.1:c.147+2T>A
  • LRG_293t1:c.516+2T>A
  • LRG_293:g.15805T>A
  • NC_000013.10:g.32900421T>A
  • NM_000059.3:c.516+2T>A
Links:
dbSNP: rs397507764
NCBI 1000 Genomes Browser:
rs397507764
Molecular consequence:
  • NM_000059.4:c.516+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406719.1:c.516+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406720.1:c.516+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406721.1:c.516+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406722.1:c.147+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
3

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000327150Consortium 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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided3not providednot providednot providedclinical testing

Details of each submission

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000327150.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided3not provided

Last Updated: Oct 26, 2024