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NM_000059.4(BRCA2):c.7033C>G (p.Gln2345Glu) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 18, 2023
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:
RCV004001245.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.7033C>G (p.Gln2345Glu)]

NM_000059.4(BRCA2):c.7033C>G (p.Gln2345Glu)

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.7033C>G (p.Gln2345Glu)
HGVS:
  • NC_000013.11:g.32354886C>G
  • NG_012772.3:g.44407C>G
  • NM_000059.4:c.7033C>GMANE SELECT
  • NP_000050.2:p.Gln2345Glu
  • NP_000050.3:p.Gln2345Glu
  • LRG_293t1:c.7033C>G
  • LRG_293:g.44407C>G
  • LRG_293p1:p.Gln2345Glu
  • NC_000013.10:g.32929023C>G
  • NM_000059.3:c.7033C>G
Protein change:
Q2345E
Links:
dbSNP: rs886040685
NCBI 1000 Genomes Browser:
rs886040685
Molecular consequence:
  • NM_000059.4:c.7033C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004844351All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Dec 18, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided108544not providedclinical testing

Citations

PubMed

The First Nationwide Multicenter Prevalence Study of Germline BRCA1 and BRCA2 Mutations in Chinese Ovarian Cancer Patients.

Wu X, Wu L, Kong B, Liu J, Yin R, Wen H, Li N, Bu H, Feng Y, Li Q, Lu X, Wei J, Zhu X, Mills J, Ellison G, Gutjahr T, Liu Y.

Int J Gynecol Cancer. 2017 Oct;27(8):1650-1657. doi: 10.1097/IGC.0000000000001065.

PubMed [citation]
PMID:
28692638

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Breast Cancer Association Consortium., Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.

N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

PubMed [citation]
PMID:
33471991
PMCID:
PMC7611105
See all PubMed Citations (4)

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV004844351.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

This missense variant replaces glutamine with glutamic acid at codon 2345 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Functional studies have shown that this variant does not impact drug sensitivity or cell viability in mouse embryonic stem cells (PMID: 37922907). This variant has been reported in an individual affected with ovarian cancer (PMID: 28692638) and in an unaffected individual (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA2_006914). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024