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NM_000059.3(BRCA2):c.5454delA (p.Cys1820Alafs) 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:
RCV000044662.2

Allele description

NM_000059.3(BRCA2):c.5454delA (p.Cys1820Alafs)

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.5454delA (p.Cys1820Alafs)
Other names:
5682delA
HGVS:
  • NC_000013.11:g.32339809delA
  • NG_012772.3:g.29330delA
  • NM_000059.3:c.5454delA
  • NP_000050.2:p.Cys1820Alafs
  • LRG_293t1:c.5454delA
  • LRG_293:g.29330delA
  • LRG_293p1:p.Cys1820Alafs
  • NC_000013.10:g.32913946delA
  • U43746.1:n.5682delA
  • p.S1818SFS*22
Links:
Breast Cancer Information Core (BIC) (BRCA2): 5682&base_change=del A; dbSNP: rs80359513
NCBI 1000 Genomes Browser:
rs80359513
Molecular consequence:
  • NM_000059.3:c.5454delA - 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
SCV000072675Invitae,
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

Cancer variation associated with the position of the mutation in the BRCA2 gene.

Lubinski J, Phelan CM, Ghadirian P, Lynch HT, Garber J, Weber B, Tung N, Horsman D, Isaacs C, Monteiro AN, Sun P, Narod SA.

Fam Cancer. 2004;3(1):1-10.

PubMed [citation]
PMID:
15131399

Details of each submission

From Invitae,, SCV000072675.2

#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