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NM_000059.3(BRCA2):c.3195_3198delTAAT (p.Asn1066Leufs) AND Breast-ovarian cancer, familial 2

Germline classification:
Pathogenic (2 submissions)
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:
RCV000113145.2

Allele description

NM_000059.3(BRCA2):c.3195_3198delTAAT (p.Asn1066Leufs)

Gene:
BRCA2:BRCA2, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.3195_3198delTAAT (p.Asn1066Leufs)
Other names:
3423del4; 3420del4
HGVS:
  • NC_000013.11:g.32337550_32337553delTAAT
  • NG_012772.3:g.27071_27074delTAAT
  • NM_000059.3:c.3195_3198delTAAT
  • NP_000050.2:p.Asn1066Leufs
  • LRG_293t1:c.3195_3198delTAAT
  • LRG_293:g.27071_27074delTAAT
  • LRG_293p1:p.Asn1066Leufs
  • NC_000013.10:g.32911687_32911690delTAAT
  • U43746.1:n.3420_3423delAATT
  • U43746.1:n.3423_3426delTAAT
  • p.N1066LfsX10
Links:
Breast Cancer Information Core (BIC) (BRCA2): 3420&base_change=del AATT; Breast Cancer Information Core (BIC) (BRCA2): 3423&base_change=del TAAT; dbSNP: rs80359375; dbSNP: rs80359376
NCBI 1000 Genomes Browser:
rs80359375
Molecular consequence:
  • NM_000059.3:c.3195_3198delTAAT - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
3

Condition(s)

Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:
MedGen: C2675520; Orphanet: 145; OMIM: 612555
Age of onset:
All ages
Prevalence:
  • 1-9 / 100 000 Orphanet: 145
  • Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. http://www.ncbi.nlm.nih.gov/books/NBK1247

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000146186Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Pathogenicgermlineclinical testing

SCV000146187Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Pathogenic
(Feb 20, 2004) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146186.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146187.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Aug 29, 2016