NM_000059.4(BRCA2):c.67+14T>C AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (1 submission)
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:
RCV002052294.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.67+14T>C]

NM_000059.4(BRCA2):c.67+14T>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.67+14T>C
HGVS:
  • NC_000013.11:g.32316541T>C
  • NG_012772.3:g.6062T>C
  • NG_017006.2:g.3823A>G
  • NM_000059.4:c.67+14T>CMANE SELECT
  • LRG_293:g.6062T>C
  • NC_000013.10:g.32890678T>C
  • NG_017006.1:g.414A>G
Links:
dbSNP: rs2138698697
NCBI 1000 Genomes Browser:
rs2138698697
Molecular consequence:
  • NM_000059.4:c.67+14T>C - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
unknown functional consequence
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
SCV002318931University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families.

Cherbal F, Bakour R, Adane S, Boualga K, Benais-Pont G, Maillet P.

Dis Markers. 2010;28(6):377-84. doi: 10.3233/DMA-2010-0718.

PubMed [citation]
PMID:
20683152
PMCID:
PMC3833328

BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P.

Dis Markers. 2012;32(6):343-53. doi: 10.3233/DMA-2012-0893.

PubMed [citation]
PMID:
22684231
PMCID:
PMC3826381
See all PubMed Citations (3)

Details of each submission

From University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM), SCV002318931.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (3)
21not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024