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NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter) AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 2, 2019
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:
RCV001001276.15

Allele description [Variation Report for NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)]

NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)

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.4111C>T (p.Gln1371Ter)
HGVS:
  • NC_000013.11:g.32338466C>T
  • NG_012772.3:g.27987C>T
  • NM_000059.4:c.4111C>TMANE SELECT
  • NP_000050.2:p.Gln1371Ter
  • NP_000050.3:p.Gln1371Ter
  • LRG_293t1:c.4111C>T
  • LRG_293:g.27987C>T
  • LRG_293p1:p.Gln1371Ter
  • NC_000013.10:g.32912603C>T
  • NM_000059.3:c.4111C>T
  • U43746.1:n.4339C>T
  • p.Gln1371*
  • p.Q1371*
Nucleotide change:
4339C>T
Protein change:
Q1371*
Links:
dbSNP: rs80358659
NCBI 1000 Genomes Browser:
rs80358659
Molecular consequence:
  • NM_000059.4:c.4111C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001158451ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Pathogenic
(May 2, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158451.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRCA2 c.4111C>T; p.Gln1371Ter variant (rs80358659) has been described in multiple individuals and families affected with hereditary breast and ovarian cancer (HBOC; Rebbeck 2018, Torres-Mejia 2015). It is reported as pathogenic by multiple sources in ClinVar (Variation ID: 51599) and is absent from general population databases (Exome Variant Server and Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, several downstream truncating variants have been described in association with HBOC (Rebbeck 2018). Based on available information, the p.Gln1371Ter variant is considered pathogenic. REFERENCES Rebbeck T et al. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018 May;39(5):593-620. Torres-Mejia G et al. Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer. Cancer Epidemiol Biomarkers Prev. 2015 Mar;24(3):498-505.

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

Last Updated: Nov 3, 2024