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NM_000059.4(BRCA2):c.681+56C>T

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Interpretation:
Benign​

Review status:
reviewed by expert panel
Submissions:
8 (Most recent: Sep 20, 2021)
Last evaluated:
Jan 12, 2015
Accession:
VCV000126192.4
Variation ID:
126192
Description:
single nucleotide variant
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NM_000059.4(BRCA2):c.681+56C>T

Allele ID
131730
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32329548 (GRCh38) GRCh38 UCSC
13: 32903685 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_293:g.19069C>T
LRG_293t1:c.681+56C>T
NC_000013.10:g.32903685C>T
... more HGVS
Protein change
-
Other names
IVS8+56C>T
IVS 8+56C>T
Canonical SPDI
NC_000013.11:32329547:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.18590 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.21627
Trans-Omics for Precision Medicine (TOPMed) 0.20076
1000 Genomes Project 0.18590
Links
Breast Cancer Information Core (BIC) (BRCA2): 909+56&base_change=C to T
ClinGen: CA024438
dbSNP: rs2126042
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 reviewed by expert panel Jan 12, 2015 RCV000114007.5
Benign 4 criteria provided, multiple submitters, no conflicts Nov 1, 2017 RCV000496747.3
Benign 1 criteria provided, single submitter Dec 9, 2014 RCV000580071.1
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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
13782 13897

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 12, 2015)
reviewed by expert panel
Method: curation
Breast-ovarian cancer, familial 2
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000244988.1
Submitted: (Aug 17, 2015)
Evidence details
Comment:
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.07343 (Asian), 0.313 (African), 0.2018 (European), derived from 1000 genomes (2012-04-30).
Benign
(Apr 20, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Department of Pathology and Molecular Medicine,Queen's University
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000588069.1
Submitted: (Aug 04, 2017)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Department of Pathology and Laboratory Medicine,Sinai Health System
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591706.1
Submitted: (Apr 19, 2017)
Evidence details
Benign
(Nov 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneKor MSA
Accession: SCV000693627.1
Submitted: (Nov 21, 2017)
Evidence details
Benign
(Oct 09, 2014)
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: SCV000743249.1
Submitted: (Apr 17, 2018)
Evidence details
Benign
(Dec 09, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000683814.1
Submitted: (Oct 26, 2017)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001906241.1
Submitted: (Sep 20, 2021)
Evidence details
Uncertain significance
(Apr 12, 1999)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000147471.1
Submitted: (Mar 28, 2014)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs2126042...

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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 Nov 10, 2021