• delete

NM_000059.3(BRCA2):c.9498delT (p.Glu3167Argfs) 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:
RCV000045833.2

Allele description

NM_000059.3(BRCA2):c.9498delT (p.Glu3167Argfs)

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.9498delT (p.Glu3167Argfs)
Other names:
9726delT
HGVS:
  • NC_000013.11:g.32394930delT
  • NG_012772.3:g.84451delT
  • NM_000059.3:c.9498delT
  • NP_000050.2:p.Glu3167Argfs
  • LRG_293t1:c.9498delT
  • LRG_293:g.84451delT
  • LRG_293p1:p.Glu3167Argfs
  • NC_000013.10:g.32969067delT
  • NM_000059.3:c.9498del
  • p.Glu3167fs
Links:
dbSNP: rs397508055
NCBI 1000 Genomes Browser:
rs397508055
Molecular consequence:
  • NM_000059.3:c.9498delT - 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
SCV000073846Invitae,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

Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

Lecarpentier J, Noguès C, Mouret-Fourme E, Gauthier-Villars M, Lasset C, Fricker JP, Caron O, Stoppa-Lyonnet D, Berthet P, Faivre L, Bonadona V, Buecher B, Coupier I, Gladieff L, Gesta P, Eisinger F, Frénay M, Luporsi E, Lortholary A, Colas C, Dugast C, Longy M, et al.

Breast Cancer Res. 2012 Jul 3;14(4):R99. doi: 10.1186/bcr3218.

PubMed [citation]
PMID:
22762150
PMCID:
PMC3680948

Details of each submission

From Invitae,, SCV000073846.2

#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