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NM_000059.4(BRCA2):c.3834_3835del (p.His1278fs) AND Breast neoplasm

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000240759.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.3834_3835del (p.His1278fs)]

NM_000059.4(BRCA2):c.3834_3835del (p.His1278fs)

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.3834_3835del (p.His1278fs)
HGVS:
  • NC_000013.11:g.32338189_32338190del
  • NG_012772.3:g.27710_27711del
  • NM_000059.4:c.3834_3835delMANE SELECT
  • NP_000050.3:p.His1278fs
  • LRG_293:g.27710_27711del
  • NC_000013.10:g.32912325_32912326del
  • NC_000013.10:g.32912326_32912327del
  • NM_000059.3:c.3834_3835delTA
  • p.(His1278GlnfsTer2)
Links:
dbSNP: rs886037803
NCBI 1000 Genomes Browser:
rs886037803
Molecular consequence:
  • NM_000059.4:c.3834_3835del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Breast neoplasm
Synonyms:
Neoplasm of breast; Breast tumor; Neoplasm of the breast; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021100; MeSH: D001943; MedGen: C1458155; Human Phenotype Ontology: HP:0100013

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000265911Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 1, 2015) 		germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

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

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

Zhong X, Dong Z, Dong H, Li J, Peng Z, Deng L, Zhu X, Sun Y, Lu X, Shen F, Su X, Zhang L, Gu Y, Zheng H.

PLoS One. 2016;11(6):e0156789. doi: 10.1371/journal.pone.0156789.

PubMed [citation]
PMID:
27257965
PMCID:
PMC4892623

Details of each submission

From Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University, SCV000265911.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024