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NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) AND Breast neoplasm

Germline classification:
Uncertain significance (1 submission)
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:
RCV000414161.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)]

NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
Other names:
NP_000050.3:p.His1561Asn
HGVS:
  • NC_000013.11:g.32339036C>A
  • NG_012772.3:g.28557C>A
  • NM_000059.4:c.4681C>AMANE SELECT
  • NP_000050.2:p.His1561Asn
  • NP_000050.3:p.His1561Asn
  • LRG_293t1:c.4681C>A
  • LRG_293:g.28557C>A
  • LRG_293p1:p.His1561Asn
  • NC_000013.10:g.32913173C>A
  • NM_000059.3:c.4681C>A
  • NM_000059.4:c.4681C>A
  • U43746.1:n.4909C>A
  • p.H1561N
Nucleotide change:
4909C>A
Protein change:
H1561N
Links:
dbSNP: rs2219594
NCBI 1000 Genomes Browser:
rs2219594
Molecular consequence:
  • NM_000059.4:c.4681C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000492495A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center
criteria provided, single submitter

(Silva et al. (BMC Med Genet. 2014))		Uncertain significancegermlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

Carraro DM, Koike Folgueira MA, Garcia Lisboa BC, Ribeiro Olivieri EH, Vitorino Krepischi AC, de Carvalho AF, de Carvalho Mota LD, Puga RD, do Socorro Maciel M, Michelli RA, de Lyra EC, Grosso SH, Soares FA, Achatz MI, Brentani H, Moreira-Filho CA, Brentani MM.

PLoS One. 2013;8(3):e57581. doi: 10.1371/journal.pone.0057581. Epub 2013 Mar 1.

PubMed [citation]
PMID:
23469205
PMCID:
PMC3586086

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC, Rossi BM, Achatz MI, Carraro DM.

BMC Med Genet. 2014 May 15;15:55. doi: 10.1186/1471-2350-15-55.

PubMed [citation]
PMID:
24884479
PMCID:
PMC4038072

Details of each submission

From A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center, SCV000492495.1

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

Last Updated: Mar 30, 2024