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NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 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:
RCV001267731.11

Allele description [Variation Report for NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)]

NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)

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.8350C>T (p.Arg2784Trp)
HGVS:
  • NC_000013.11:g.32370420C>T
  • NG_012772.3:g.59941C>T
  • NM_000059.4:c.8350C>TMANE SELECT
  • NP_000050.2:p.Arg2784Trp
  • NP_000050.3:p.Arg2784Trp
  • LRG_293t1:c.8350C>T
  • LRG_293:g.59941C>T
  • LRG_293p1:p.Arg2784Trp
  • NC_000013.10:g.32944557C>T
  • NM_000059.3:c.8350C>T
  • U43746.1:n.8578C>T
  • p.Arg2784Trp
  • p.R2784W
Nucleotide change:
8578C>T
Protein change:
R2784W
Links:
dbSNP: rs80359075
NCBI 1000 Genomes Browser:
rs80359075
Molecular consequence:
  • NM_000059.4:c.8350C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555
Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001251302King Laboratory, University of Washington
no assertion criteria provided
Uncertain significance
(Sep 1, 2019) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Characterization of splice-altering mutations in inherited predisposition to cancer.

Casadei S, Gulsuner S, Shirts BH, Mandell JB, Kortbawi HM, Norquist BS, Swisher EM, Lee MK, Goldberg Y, O'Connor R, Tan Z, Pritchard CC, King MC, Walsh T.

Proc Natl Acad Sci U S A. 2019 Dec 26;116(52):26798-26807. doi: 10.1073/pnas.1915608116. Epub 2019 Dec 16.

PubMed [citation]
PMID:
31843900
PMCID:
PMC6936554

Details of each submission

From King Laboratory, University of Washington, SCV001251302.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

This variant yielded normal BRCA2 splicing when tested on RNA from a patient’s lymphoblast cell line using cBROCA. cBROCA evaluates changes in splicing due to germline mutations from participants' RNA and does not evaluate changes that alter function at the protein level. This variant might have an effect at the protein level.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024