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NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 22, 2022
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:
RCV003162380.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter)]

NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter)

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.5344C>T (p.Gln1782Ter)
Other names:
5572C>T; NP_000050.3:p.Gln1782Ter
HGVS:
  • NC_000013.11:g.32339699C>T
  • NG_012772.3:g.29220C>T
  • NM_000059.4:c.5344C>TMANE SELECT
  • NP_000050.2:p.Gln1782Ter
  • NP_000050.3:p.Gln1782Ter
  • LRG_293t1:c.5344C>T
  • LRG_293:g.29220C>T
  • LRG_293p1:p.Gln1782Ter
  • NC_000013.10:g.32913836C>T
  • NM_000059.3:c.5344C>T
  • NM_000059.4:c.5344C>T
  • U43746.1:n.5572C>T
Protein change:
Q1782*
Links:
dbSNP: rs80358757
NCBI 1000 Genomes Browser:
rs80358757
Molecular consequence:
  • NM_000059.4:c.5344C>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
SCV003877264Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 22, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

Zhang S, Royer R, Li S, McLaughlin JR, Rosen B, Risch HA, Fan I, Bradley L, Shaw PA, Narod SA.

Gynecol Oncol. 2011 May 1;121(2):353-7. doi: 10.1016/j.ygyno.2011.01.020. Epub 2011 Feb 15.

PubMed [citation]
PMID:
21324516

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
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV003877264.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.Q1782* pathogenic mutation (also known as c.5344C>T), located in coding exon 10 of the BRCA2 gene, results from a C to T substitution at nucleotide position 5344. This changes the amino acid from a glutamine to a stop codon within coding exon 10. This alteration has been identified in individuals diagnosed with breast, pancreatic and/or ovarian cancer (Zhang S et al. Gynecol Oncol, 2011 May;121:353-7; Xiong A et al. Am J Cancer Res, 2021 Sep;11:4551-4567; Van der Merwe NC et al. Front Genet, 2022 Apr;13:834265). 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). Of note, this alteration is also known as 5572C>T in published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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: Sep 29, 2024