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NM_000059.4(BRCA2):c.425+33A>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 30, 2021)
Last evaluated:
Sep 11, 2019
Accession:
VCV000225712.8
Variation ID:
225712
Description:
single nucleotide variant
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NM_000059.4(BRCA2):c.425+33A>G

Allele ID
227521
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32325217 (GRCh38) GRCh38 UCSC
13: 32899354 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32899354A>G
NC_000013.11:g.32325217A>G
NG_012772.3:g.14738A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:32325216:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00029
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD) 0.00010
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Trans-Omics for Precision Medicine (TOPMed) 0.00042
Exome Aggregation Consortium (ExAC) 0.00052
The Genome Aggregation Database (gnomAD) 0.00028
The Genome Aggregation Database (gnomAD), exomes 0.00037
Links
ClinGen: CA6940357
dbSNP: rs200065709
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Nov 3, 2014 RCV000211021.4
Likely benign 2 criteria provided, single submitter - RCV000503983.4
Benign 1 criteria provided, single submitter Sep 11, 2019 RCV001282170.2
Likely benign 1 no assertion criteria provided - RCV001723787.1
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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
13784 13899

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 03, 2014)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Michigan Medical Genetics Laboratories,University of Michigan
Accession: SCV000195948.1
Submitted: (Apr 21, 2016)
Evidence details
Likely 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: SCV000591677.1
Submitted: (Apr 19, 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: SCV000743238.1
Submitted: (Apr 17, 2018)
Evidence details
Benign
(Sep 11, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001157120.2
Submitted: (Dec 11, 2020)
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: SCV001905722.1
Submitted: (Sep 20, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001951806.1
Submitted: (Sep 30, 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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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 rs200065709...

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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 27, 2021