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NM_000059.4(BRCA2):c.4008_4009insCATC (p.Asp1337fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 31, 2014
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:
RCV000496219.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.4008_4009insCATC (p.Asp1337fs)]

NM_000059.4(BRCA2):c.4008_4009insCATC (p.Asp1337fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.4008_4009insCATC (p.Asp1337fs)
Other names:
4236ins4
HGVS:
  • NC_000013.11:g.32338363_32338364insCATC
  • NG_012772.3:g.27884_27885insCATC
  • NM_000059.4:c.4008_4009insCATCMANE SELECT
  • NP_000050.2:p.Asp1337fs
  • NP_000050.3:p.Asp1337fs
  • LRG_293t1:c.4008_4009insCATC
  • LRG_293:g.27884_27885insCATC
  • LRG_293p1:p.Asp1337fs
  • NC_000013.10:g.32912500_32912501insCATC
  • NM_000059.3:c.4008_4009insCATC
  • U43746.1:n.4236_4237insCATC
Protein change:
D1337fs
Links:
Breast Cancer Information Core (BIC) (BRCA2): 4236&base_change=ins CATC; dbSNP: rs80359420
NCBI 1000 Genomes Browser:
rs80359420
Molecular consequence:
  • NM_000059.4:c.4008_4009insCATC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000587695Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Pathogenic
(Jan 31, 2014) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587695.1

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

Last Updated: Mar 30, 2024