NM_000059.4(BRCA2):c.7008-1G>A AND Breast and/or ovarian cancer

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 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:
RCV000168595.4

Allele description [Variation Report for NM_000059.4(BRCA2):c.7008-1G>A]

NM_000059.4(BRCA2):c.7008-1G>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.7008-1G>A
HGVS:
  • NC_000013.11:g.32354860G>A
  • NG_012772.3:g.44381G>A
  • NM_000059.4:c.7008-1G>AMANE SELECT
  • NM_001406719.1:c.6912-1G>A
  • NM_001406720.1:c.7008-1G>A
  • NM_001406721.1:c.2076-1G>A
  • NM_001406722.1:c.591-1G>A
  • LRG_293t1:c.7008-1G>A
  • LRG_293:g.44381G>A
  • NC_000013.10:g.32928997G>A
  • NM_000059.3:c.7008-1G>A
Links:
dbSNP: rs786204280
NCBI 1000 Genomes Browser:
rs786204280
Molecular consequence:
  • NM_000059.4:c.7008-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406719.1:c.6912-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406720.1:c.7008-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406721.1:c.2076-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406722.1:c.591-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Breast and/or ovarian cancer
Identifiers:
MedGen: CN221562

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000219387CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 2, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000219387.4

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

Last Updated: Oct 13, 2024