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NM_000059.3(BRCA2):c.8317_8330delTCTCTTATGTTAAA (p.Ser2773Aspfs) AND Familial cancer of breast

Germline classification:
not provided (1 submission)
Last evaluated:
Feb 1, 2013
Review status:
no classification 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:
RCV000045470.2

Allele description

NM_000059.3(BRCA2):c.8317_8330delTCTCTTATGTTAAA (p.Ser2773Aspfs)

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.8317_8330delTCTCTTATGTTAAA (p.Ser2773Aspfs)
HGVS:
  • NC_000013.11:g.32363519_32363532delTCTCTTATGTTAAA
  • NG_012772.3:g.53040_53053delTCTCTTATGTTAAA
  • NM_000059.3:c.8317_8330delTCTCTTATGTTAAA
  • NP_000050.2:p.Ser2773Aspfs
  • LRG_293t1:c.8317_8330delTCTCTTATGTTAAA
  • LRG_293:g.53040_53053delTCTCTTATGTTAAA
  • LRG_293p1:p.Ser2773Aspfs
  • NC_000013.10:g.32937656_32937669delTCTCTTATGTTAAA
  • NM_000059.3:c.8317_8330del14
Links:
dbSNP: rs397507976
NCBI 1000 Genomes Browser:
rs397507976
Molecular consequence:
  • NM_000059.3:c.8317_8330delTCTCTTATGTTAAA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
CHEK2-Related Breast Cancer
Identifiers:
MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000073483Invitae,
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Brüggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N, Lange MB, Oosterwijk JC, Meijers-Heijboer H, Ausems MG, Hoogerbrugge N, Verhoef S, et al.

Hum Mutat. 2006 Jul;27(7):654-66.

PubMed [citation]
PMID:
16683254

Details of each submission

From Invitae,, SCV000073483.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 7, 2017