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NM_000059.4(BRCA2):c.8941G>T (p.Glu2981Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2020
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:
RCV002374441.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.8941G>T (p.Glu2981Ter)]

NM_000059.4(BRCA2):c.8941G>T (p.Glu2981Ter)

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.8941G>T (p.Glu2981Ter)
Other names:
9169C>T
HGVS:
  • NC_000013.11:g.32379503G>T
  • NG_012772.3:g.69024G>T
  • NM_000059.4:c.8941G>TMANE SELECT
  • NP_000050.2:p.Glu2981Ter
  • NP_000050.3:p.Glu2981Ter
  • LRG_293t1:c.8941G>T
  • LRG_293:g.69024G>T
  • LRG_293p1:p.Glu2981Ter
  • NC_000013.10:g.32953640G>T
  • NM_000059.3:c.8941G>T
  • p.Glu2981X
Protein change:
E2981*
Links:
dbSNP: rs139052578
NCBI 1000 Genomes Browser:
rs139052578
Molecular consequence:
  • NM_000059.4:c.8941G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Hereditary neoplastic syndrome; 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
SCV002683943Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 1, 2020) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.

Alvarez C, Tapia T, Perez-Moreno E, Gajardo-Meneses P, Ruiz C, Rios M, Missarelli C, Silva M, Cruz A, Matamala L, Carvajal-Carmona L, Camus M, Carvallo P.

Oncotarget. 2017 Sep 26;8(43):74233-74243. doi: 10.18632/oncotarget.18815.

PubMed [citation]
PMID:
29088781
PMCID:
PMC5650336

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938

Details of each submission

From Ambry Genetics, SCV002683943.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.E2981* pathogenic mutation (also known as c.8941G>T), located in coding exon 21 of the BRCA2 gene, results from a G to T substitution at nucleotide position 8941. This changes the amino acid from a glutamic acid to a stop codon within coding exon 21. This alteration was identified in an individual diagnosed with breast cancer from Chile (Alvarez C et al. Oncotarget, 2017 Sep;8:74233-74243). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 16, 2025