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NM_000059.4(BRCA2):c.8821C>T (p.Gln2941Ter) 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:
RCV003162393.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.8821C>T (p.Gln2941Ter)]

NM_000059.4(BRCA2):c.8821C>T (p.Gln2941Ter)

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.8821C>T (p.Gln2941Ter)
Other names:
9049C>T
HGVS:
  • NC_000013.11:g.32379383C>T
  • NG_012772.3:g.68904C>T
  • NM_000059.4:c.8821C>TMANE SELECT
  • NP_000050.2:p.Gln2941Ter
  • NP_000050.3:p.Gln2941Ter
  • LRG_293t1:c.8821C>T
  • LRG_293:g.68904C>T
  • LRG_293p1:p.Gln2941Ter
  • NC_000013.10:g.32953520C>T
  • NM_000059.3:c.8821C>T
  • p.Gln2941X
Protein change:
Q2941*
Links:
dbSNP: rs397508012
NCBI 1000 Genomes Browser:
rs397508012
Molecular consequence:
  • NM_000059.4:c.8821C>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
SCV003855498Ambry Genetics
criteria provided, single submitter

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

PubMed (3)
[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

Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

Hansen TV, Jønson L, Steffensen AY, Andersen MK, Kjaergaard S, Gerdes AM, Ejlertsen B, Nielsen FC.

Fam Cancer. 2011 Jun;10(2):207-12. doi: 10.1007/s10689-011-9422-5.

PubMed [citation]
PMID:
21318380

Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.

Rummel SK, Lovejoy L, Shriver CD, Ellsworth RE.

Breast Cancer Res Treat. 2017 Aug;164(3):593-601. doi: 10.1007/s10549-017-4291-8. Epub 2017 May 13.

PubMed [citation]
PMID:
28503720
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV003855498.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.Q2941* pathogenic mutation (also known as c.8821C>T), located in coding exon 21 of the BRCA2 gene, results from a C to T substitution at nucleotide position 8821. This changes the amino acid from a glutamine to a stop codon within coding exon 21. This alteration has been identified in individuals diagnosed with breast cancer (Hansen TV et al. Fam Cancer, 2011 Jun;10:207-12; Rummel SK et al. Breast Cancer Res Treat, 2017 Aug;164:593-601). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 May;39:593-620). 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: Nov 10, 2024