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NM_015175.3(NBEAL2):c.5302-13A>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 30, 2021)
Last evaluated:
Jun 9, 2021
Accession:
VCV000260584.8
Variation ID:
260584
Description:
single nucleotide variant
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NM_015175.3(NBEAL2):c.5302-13A>T

Allele ID
251181
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 47002632 (GRCh38) GRCh38 UCSC
3: 47044122 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.47044122A>T
NC_000003.12:g.47002632A>T
NG_031914.1:g.27950A>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:47002631:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.05072 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.94886
The Genome Aggregation Database (gnomAD) 0.95269
Trans-Omics for Precision Medicine (TOPMed) 0.94750
1000 Genomes Project 0.94928
The Genome Aggregation Database (gnomAD), exomes 0.98853
Exome Aggregation Consortium (ExAC) 0.98735
Links
dbSNP: rs11928558
ClinGen: CA2361507
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, single submitter - RCV000252796.4
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000358730.2
Benign 1 criteria provided, single submitter Jun 9, 2021 RCV001675737.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NBEAL2 - - GRCh38
GRCh37
300 317

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000312431.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Gray platelet syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000444888.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jun 09, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001893055.1
Submitted: (Sep 18, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001742731.3
Submitted: (Sep 02, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001954168.1
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 rs11928558...

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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 Oct 24, 2021