U.S. flag

An official website of the United States government

NM_000059.4(BRCA2):c.316+5_316+8del AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 2, 2023
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:
RCV003334732.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.316+5_316+8del]

NM_000059.4(BRCA2):c.316+5_316+8del

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.316+5_316+8del
HGVS:
  • NC_000013.11:g.32319326GTAA[1]
  • NG_012772.3:g.8847GTAA[1]
  • NG_017006.2:g.1031TTAC[1]
  • NM_000059.4:c.316+5_316+8delMANE SELECT
  • NM_001406719.1:c.316+5_316+8del
  • NM_001406720.1:c.316+5_316+8del
  • NM_001406721.1:c.316+5_316+8del
  • NM_001406722.1:c.-54+5_-54+8del
  • LRG_293:g.8847GTAA[1]
  • NC_000013.10:g.32893463GTAA[1]
Molecular consequence:
  • NM_000059.4:c.316+5_316+8del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406719.1:c.316+5_316+8del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406720.1:c.316+5_316+8del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406721.1:c.316+5_316+8del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406722.1:c.-54+5_-54+8del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV004043866Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(May 2, 2023) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.

Bonnet C, Krieger S, Vezain M, Rousselin A, Tournier I, Martins A, Berthet P, Chevrier A, Dugast C, Layet V, Rossi A, Lidereau R, Frébourg T, Hardouin A, Tosi M.

J Med Genet. 2008 Jul;45(7):438-46. doi: 10.1136/jmg.2007.056895. Epub 2008 Apr 18.

PubMed [citation]
PMID:
18424508

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, Gutiérrez-Enríquez S, Menéndez M, Fachal L, Santamariña M, Steffensen AY, Jønson L, Agata S, Whiley P, Tognazzo S, Tornero E, Jensen UB, Balmaña J, Kruse TA, Goldgar DE, Lázaro C, Diez O, Spurdle AB, et al.

Breast Cancer Res Treat. 2012 Apr;132(3):1009-23. doi: 10.1007/s10549-011-1674-0. Epub 2011 Jul 19.

PubMed [citation]
PMID:
21769658
See all PubMed Citations (3)

Details of each submission

From Myriad Genetics, Inc., SCV004043866.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is considered likely pathogenic. mRNA analysis has demonstrated abnormal mRNA splicing occurs [PMID: 18424508, 21769658]. This variant is strongly associated with more severe personal and family histories of cancer, typical for individuals with pathogenic variants in this gene [PMID: 25085752, Myriad internal data].

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

Last Updated: Sep 1, 2024