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NM_000059.3(BRCA2):c.8754+5G>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 9, 2021)
Last evaluated:
Jul 28, 2017
Accession:
VCV000038182.6
Variation ID:
38182
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.8754+5G>A

Allele ID
46738
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32376796 (GRCh38) GRCh38 UCSC
13: 32950933 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000059.3:c.8754+5G>A
U43746.1:n.8982+5G>A
LRG_293t1:c.8754+5G>A
... more HGVS
Protein change
-
Other names
IVS21+5G>A
Canonical SPDI
NC_000013.11:32376795:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Breast Cancer Information Core (BIC) (BRCA2): 8982+5&base_change=G to A
ClinGen: CA025807
dbSNP: rs81002813
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 5 criteria provided, multiple submitters, no conflicts Jul 28, 2017 RCV000031765.9
Likely pathogenic 1 criteria provided, single submitter Mar 21, 2016 RCV000571571.1
Pathogenic 1 criteria provided, single submitter Dec 1, 2013 RCV001642489.1
Pathogenic 1 no assertion criteria provided - RCV001573455.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
14102 14215

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 28, 2017)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743352.1
Submitted: (Apr 17, 2018)
Evidence details
Likely pathogenic
(Mar 21, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000666018.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.8754+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 20 in the BRCA2 gene. This alteration has been … (more)
Pathogenic
(Oct 02, 2015)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000327957.3
Submitted: (Oct 28, 2016)
Evidence details
Pathogenic
(Dec 01, 2013)
criteria provided, single submitter
Method: curation
Breast-ovarian cancer, familial 1
Breast-ovarian cancer, familial 2
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Research and Development, ARUP Laboratories
Accession: SCV001854418.1
Submitted: (Sep 09, 2021)
Evidence details
Publications
PubMed (1)
Other databases
https://arup.utah.edu/database/B…
Uncertain significance
(Dec 23, 2003)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000147449.1
Submitted: (Mar 28, 2014)
Evidence details
Pathogenic
(May 01, 2012)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000054373.5
Submitted: (Dec 30, 2013)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733323.1
Submitted: (Apr 04, 2018)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001799365.1
Submitted: (Aug 19, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs. Vreeswijk MP Human mutation 2009 PMID: 18693280
https://arup.utah.edu/database/BRCA/Variants/BRCA2.php - - - -

Text-mined citations for rs81002813...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 18, 2021