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NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 25, 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:
RCV002371878.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter)]

NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter)

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.9286G>T (p.Glu3096Ter)
HGVS:
  • NC_000013.11:g.32394718G>T
  • NG_012772.3:g.84239G>T
  • NM_000059.4:c.9286G>TMANE SELECT
  • NP_000050.2:p.Glu3096Ter
  • NP_000050.3:p.Glu3096Ter
  • LRG_293t1:c.9286G>T
  • LRG_293:g.84239G>T
  • LRG_293p1:p.Glu3096Ter
  • NC_000013.10:g.32968855G>T
  • NM_000059.3:c.9286G>T
  • U43746.1:n.9514G>T
Protein change:
E3096*
Links:
dbSNP: rs80359199
NCBI 1000 Genomes Browser:
rs80359199
Molecular consequence:
  • NM_000059.4:c.9286G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002686870Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 25, 2015) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing.

de la Hoya M, Osorio A, Godino J, Sulleiro S, Tosar A, Perez-Segura P, Fernandez C, Rodríguez R, Díaz-Rubio E, Benítez J, Devilee P, Caldés T.

Int J Cancer. 2002 Feb 1;97(4):466-71.

PubMed [citation]
PMID:
11802208

Details of each submission

From Ambry Genetics, SCV002686870.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.E3096* pathogenic mutation (also known as c.9286G>T), located in coding exon 24 of the BRCA2 gene, results from a G to T substitution at nucleotide position 9286. This changes the amino acid from a glutamic acid to a stop codon within coding exon 24. This mutation (designated as E 3096 stop) was detected in a Spanish family with multiple breast and ovarian cancers (de la Hoya M et al, Int. J. Cancer 2002 Feb; 97(4):466-71). In addition to this clinical data, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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

Last Updated: Jun 9, 2024