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NM_000059.4(BRCA2):c.3860del (p.Asn1287fs) AND Breast and/or ovarian cancer

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jun 11, 2019
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:
RCV000735542.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)]

NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)
Other names:
4088delA; 4082delA
HGVS:
  • NC_000013.11:g.32338215del
  • NG_012772.3:g.27736del
  • NM_000059.4:c.3860delMANE SELECT
  • NP_000050.3:p.Asn1287fs
  • LRG_293:g.27736del
  • NC_000013.10:g.32912346del
  • NC_000013.10:g.32912352del
  • NC_000013.10:g.32912352delA
  • NC_000013.11:g.32338215delA
  • NM_000059.3:c.3854_3854delA
  • NM_000059.3:c.3854delA
  • NM_000059.3:c.3860delA
  • NM_000059.4:c.3860del
  • U43746.1:n.4082delA
  • U43746.1:n.4088delA
  • p.Asn1287Ilefs*6
  • p.N1287IfsX6
Nucleotide change:
4088DELA
Links:
Breast Cancer Information Core (BIC) (BRCA2): 4082&base_change=del A; Breast Cancer Information Core (BIC) (BRCA2): 4088&base_change=del A; dbSNP: rs80359406
NCBI 1000 Genomes Browser:
rs80359406
Molecular consequence:
  • NM_000059.4:c.3860del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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
SCV000863680Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Pathogenic
(Jan 19, 2010) 		germlineclinical testing

SCV001451850CZECANCA consortium
no assertion criteria provided
Pathogenic
(Jun 11, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
Slavicgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, et al.

Cancers (Basel). 2020 Apr 13;12(4). doi: 10.3390/cancers12040956.

PubMed [citation]
PMID:
32295079
PMCID:
PMC7226062

Details of each submission

From Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR), SCV000863680.1

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

From CZECANCA consortium, SCV001451850.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Slavic1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024