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NM_000059.4(BRCA2):c.516+1dup AND Familial cancer of breast

Germline classification:
not provided (1 submission)
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:
RCV000577035.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.516+1dup]

NM_000059.4(BRCA2):c.516+1dup

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.516+1dup
HGVS:
  • NC_000013.11:g.32326283dup
  • NG_012772.3:g.15804dup
  • NM_000059.4:c.516+1dupMANE SELECT
  • NM_000059.4:c.516+1dupG
  • NM_001406719.1:c.516+1dup
  • NM_001406720.1:c.516+1dup
  • NM_001406721.1:c.516+1dup
  • NM_001406722.1:c.147+1dup
  • LRG_293:g.15804dup
  • NC_000013.10:g.32900420dup
  • NM_000059.3:c.516+1dupG
Links:
dbSNP: rs397507763
NCBI 1000 Genomes Browser:
rs397507763
Molecular consequence:
  • NM_000059.4:c.516+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406719.1:c.516+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406720.1:c.516+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406721.1:c.516+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406722.1:c.147+1dup - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000678761ClinVar Staff, National Center for Biotechnology Information (NCBI)
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 high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer.

Jakubowska A, Scott R, Menkiszak J, Gronwald J, Byrski T, Huzarski T, Górski B, Cybulski C, Debniak T, Kowalska E, Starzyńska T, Ławniczak M, Narod S, Lubinski J.

Eur J Hum Genet. 2003 Dec;11(12):955-8.

PubMed [citation]
PMID:
14647210

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000678761.1

#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: Oct 26, 2024