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NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) AND Ovarian neoplasm

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000785592.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)]

NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)

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.5351dup (p.Asn1784fs)
HGVS:
  • NC_000013.11:g.32339706dup
  • NG_012772.3:g.29227dup
  • NM_000059.4:c.5351dupMANE SELECT
  • NM_000059.4:c.5351dupA
  • NP_000050.3:p.Asn1784fs
  • LRG_293t1:c.5351dup
  • LRG_293:g.29227dup
  • NC_000013.10:g.32913836_32913837insA
  • NC_000013.10:g.32913843dup
  • NM_000059.3:c.5351dup
  • NM_000059.3:c.5351dupA
  • NM_000059.4:c.5351dup
  • U43746.1:n.5579_5580insA
  • p.N1784KFS*3
  • p.N1784KfsX3
Nucleotide change:
5579insA
Protein change:
N1784fs
Links:
Breast Cancer Information Core (BIC) (BRCA2): 5579&base_change=ins A; dbSNP: rs80359507
NCBI 1000 Genomes Browser:
rs80359507
Molecular consequence:
  • NM_000059.4:c.5351dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Ovarian neoplasm
Synonyms:
Neoplasm of ovary; Ovarian tumor; Ovarian Neoplasms
Identifiers:
MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; Human Phenotype Ontology: HP:0100615

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000924167German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
no assertion criteria provided
Pathogenic
(Dec 1, 2018) 		somaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, SCV000924167.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024