NM_000059.4(BRCA2):c.6841+80_6841+83del AND Hereditary cancer-predisposing syndrome

Clinical significance:Benign (Last evaluated: Mar 10, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000580757.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.6841+80_6841+83del]

NM_000059.4(BRCA2):c.6841+80_6841+83del

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.6841+80_6841+83del
Other names:
IVS11+80del4; IVS11+80delTTAA; IVS11+79del4; IVS 11+78del4
HGVS:
  • NC_000013.11:g.32341276_32341279del
  • NG_012772.3:g.30797_30800del
  • NG_012772.3:g.30797_30800delTTAA
  • NM_000059.3:c.6841+80_6841+83del
  • NM_000059.4:c.6841+80_6841+83delMANE SELECT
  • LRG_293t1:c.6841+80_6841+83del
  • LRG_293:g.30797_30800del
  • NC_000013.10:g.32915413_32915416del
  • NC_000013.10:g.32915413_32915416delTTAA
  • NG_012772.3:g.30797_30800delTTAA
  • NM_000059.3:c.6841+78_6841+81delAATT
  • NM_000059.3:c.6841+80_6841+83delTTAA
  • U43746.1:n.7069+79_7069+82del4
  • U43746.1:n.7069+80_7069+83delTTAA
Links:
Breast Cancer Information Core (BIC) (BRCA2): 7069+79&base_change=del 4; Breast Cancer Information Core (BIC) (BRCA2): 7069+80&base_change=del TTAA; dbSNP: rs11571661
NCBI 1000 Genomes Browser:
rs11571661
Molecular consequence:
  • NM_000059.3:c.6841+80_6841+83del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000059.4:c.6841+80_6841+83del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000683818Color Health, Inccriteria provided, single submitter
Benign
(Mar 10, 2015)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Health, Inc, SCV000683818.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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