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NM_000059.4(BRCA2):c.682-1G>C AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 20, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000114011.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.682-1G>C]

NM_000059.4(BRCA2):c.682-1G>C

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.682-1G>C
Other names:
IVS8-1G>C
HGVS:
  • NC_000013.11:g.32330918G>C
  • NG_012772.3:g.20439G>C
  • NM_000059.4:c.682-1G>CMANE SELECT
  • NM_001406719.1:c.682-1G>C
  • NM_001406720.1:c.682-1G>C
  • NM_001406721.1:c.682-1G>C
  • NM_001406722.1:c.313-1G>C
  • LRG_293t1:c.682-1G>C
  • LRG_293:g.20439G>C
  • NC_000013.10:g.32905055G>C
  • NM_000059.3:c.682-1G>C
  • U43746.1:n.910-1G>C
Links:
Breast Cancer Information Core (BIC) (BRCA2): 910-1&base_change=G to C; dbSNP: rs81002831
NCBI 1000 Genomes Browser:
rs81002831
Molecular consequence:
  • NM_000059.4:c.682-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406719.1:c.682-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406720.1:c.682-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406721.1:c.682-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406722.1:c.313-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
2

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
SCV000147479Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Pathogenic
(Feb 20, 2004) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Sinhalesegermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147479.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Sinhalese1not providednot providedclinical testingnot provided
2Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024