• delete

NM_000059.3(BRCA2):c.6996delT (p.Cys2332Trpfs) AND Familial cancer of breast

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000045105.2

Allele description

NM_000059.3(BRCA2):c.6996delT (p.Cys2332Trpfs)

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.6996delT (p.Cys2332Trpfs)
HGVS:
  • NC_000013.11:g.32346885delT
  • NG_012772.3:g.36406delT
  • NM_000059.3:c.6996delT
  • NP_000050.2:p.Cys2332Trpfs
  • LRG_293t1:c.6996delT
  • LRG_293:g.36406delT
  • LRG_293p1:p.Cys2332Trpfs
  • NC_000013.10:g.32921022delT
Links:
dbSNP: rs397507889
NCBI 1000 Genomes Browser:
rs397507889
Molecular consequence:
  • NM_000059.3:c.6996delT - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000073118Invitae,no assertion providednot providedgermlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

Zhang S, Royer R, Li S, McLaughlin JR, Rosen B, Risch HA, Fan I, Bradley L, Shaw PA, Narod SA.

Gynecol Oncol. 2011 May 1;121(2):353-7. doi: 10.1016/j.ygyno.2011.01.020. Epub 2011 Feb 15.

PubMed [citation]
PMID:
21324516

Details of each submission

From Invitae,, SCV000073118.2

#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