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NM_000059.4(BRCA2):c.67+62T>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 30, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000125991.6
Variation ID:
125991
Description:
single nucleotide variant
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NM_000059.4(BRCA2):c.67+62T>G

Allele ID
131529
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32316589 (GRCh38) GRCh38 UCSC
13: 32890726 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32890726T>G
NC_000013.11:g.32316589T>G
NG_012772.3:g.6110T>G
... more HGVS
Protein change
-
Other names
IVS2+62T/G
IVS2+62T>G
Canonical SPDI
NC_000013.11:32316588:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00280 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00232
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00350
Trans-Omics for Precision Medicine (TOPMed) 0.00241
1000 Genomes Project 0.00280
Links
Breast Cancer Information Core (BIC) (BRCA2): 295+62&base_change=T to G
ClinGen: CA024387
dbSNP: rs11571574
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 4 criteria provided, multiple submitters, no conflicts Oct 25, 2017 RCV000503004.6
Benign 1 criteria provided, single submitter Mar 11, 2015 RCV000582922.1
Benign 1 criteria provided, single submitter Dec 6, 2020 RCV001512186.1
Uncertain significance 1 no assertion criteria provided Dec 17, 2010 RCV000113082.2
Likely benign 1 no assertion criteria provided - RCV001723675.1
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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
(May 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602748.1
Submitted: (Jun 30, 2017)
Evidence details
Likely benign
(Oct 25, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Department of Pathology and Laboratory Medicine,Sinai Health System
Study: Canadian Open Genetics Repository (COGR)
Accession: SCV000591656.2
Submitted: (Oct 30, 2017)
Evidence details
Benign
(Mar 11, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000688994.1
Submitted: (Dec 21, 2017)
Evidence details
Benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV001719551.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001930453.1
Submitted: (Sep 23, 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: SCV001955755.1
Submitted: (Sep 30, 2021)
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: SCV001905733.1
Submitted: (Sep 20, 2021)
Evidence details
Uncertain significance
(Dec 17, 2010)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000146097.1
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 rs11571574...

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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 11, 2021