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NM_000059.4(BRCA2):c.7806-2A>G AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 28, 2024
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:
RCV000045321.23

Allele description [Variation Report for NM_000059.4(BRCA2):c.7806-2A>G]

NM_000059.4(BRCA2):c.7806-2A>G

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.7806-2A>G
HGVS:
  • NC_000013.11:g.32362521A>G
  • NG_012772.3:g.52042A>G
  • NM_000059.4:c.7806-2A>GMANE SELECT
  • NM_001406719.1:c.7710-2A>G
  • NM_001406720.1:c.7806-2A>G
  • NM_001406721.1:c.2874-2A>G
  • NM_001406722.1:c.1389-2A>G
  • LRG_293t1:c.7806-2A>G
  • LRG_293:g.52042A>G
  • NC_000013.10:g.32936658A>G
  • NM_000059.3:c.7806-2A>G
  • U43746.1:n.8034-2A>G
Nucleotide change:
IVS16-2A>G
Links:
Breast Cancer Information Core (BIC) (BRCA2): 8034-2&base_change=A to G; dbSNP: rs81002836
NCBI 1000 Genomes Browser:
rs81002836
Molecular consequence:
  • NM_000059.4:c.7806-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406719.1:c.7710-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406720.1:c.7806-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406721.1:c.2874-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406722.1:c.1389-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000073334Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 28, 2024) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

SCV000587912Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Pathogenic
(Jan 31, 2014) 		germlineresearch

Help

Summary from all submissions

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

Citations

PubMed

BRCA2 gene mutations in Slovenian male breast cancer patients.

Besic N, Cernivc B, de Grève J, Lokar K, Krajc M, Novakovic S, Zgajnar J, Teugels E.

Genet Test. 2008 Jun;12(2):203-9. doi: 10.1089/gte.2007.0071.

PubMed [citation]
PMID:
18439106

Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

Krajc M, Teugels E, Zgajnar J, Goelen G, Besic N, Novakovic S, Hocevar M, De Grève J.

BMC Med Genet. 2008 Sep 10;9:83. doi: 10.1186/1471-2350-9-83.

PubMed [citation]
PMID:
18783588
PMCID:
PMC2547096
See all PubMed Citations (7)

Details of each submission

From Invitae, SCV000073334.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This sequence change affects an acceptor splice site in intron 16 of the BRCA2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with breast/ovarian cancer (PMID: 10449599, 12461697, 18439106, 18783588, 21232165, 23199084). It is commonly reported in individuals of Slovenian ancestry (PMID: 10449599, 12461697, 18439106, 18783588, 21232165, 23199084). ClinVar contains an entry for this variant (Variation ID: 52418). Studies have shown that disruption of this splice site results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 10449599, 12461697; Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.

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

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587912.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024