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NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs) AND Breast and/or ovarian cancer

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 22, 2015
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:
RCV000735603.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)]

NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)
HGVS:
  • NC_000013.11:g.32355102CA[1]
  • NG_012772.3:g.44623CA[1]
  • NM_000059.4:c.7251_7252delMANE SELECT
  • NP_000050.3:p.His2417fs
  • LRG_293:g.44623CA[1]
  • NC_000013.10:g.32929239CA[1]
  • NC_000013.10:g.32929239_32929240del
  • NM_000059.3:c.7251_7252delCA
  • NM_000059.4:c.7251_7252del
  • p.H2417QFS*3
Nucleotide change:
7479delCA
Protein change:
H2417fs
Links:
dbSNP: rs397507907
NCBI 1000 Genomes Browser:
rs397507907
Molecular consequence:
  • NM_000059.4:c.7251_7252del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Breast and/or ovarian cancer
Identifiers:
MedGen: CN221562

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000863741Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Pathogenic
(Apr 22, 2015) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR), SCV000863741.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024