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NM_015175.3(NBEAL2):c.4170G>A (p.Ser1390=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 6, 2020)
Last evaluated:
Nov 5, 2018
Accession:
VCV000435925.4
Variation ID:
435925
Description:
single nucleotide variant
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NM_015175.3(NBEAL2):c.4170G>A (p.Ser1390=)

Allele ID
428197
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 47000269 (GRCh38) GRCh38 UCSC
3: 47041759 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015175.2:c.4170G>A NP_055990.1:p.Ser1390= synonymous
LRG_568:g.25587G>A
LRG_568t1:c.4170G>A LRG_568p1:p.Ser1390=
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:47000268:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00759 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00557
1000 Genomes Project 0.00759
The Genome Aggregation Database (gnomAD), exomes 0.00137
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00484
The Genome Aggregation Database (gnomAD) 0.00529
Exome Aggregation Consortium (ExAC) 0.00176
Links
ClinGen: CA2361160
dbSNP: rs139822454
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Oct 30, 2018 RCV000499581.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV001146514.1
Benign 1 criteria provided, single submitter Nov 5, 2018 RCV000895274.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Oct 30, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000595900.2
Submitted: (Mar 06, 2020)
Evidence details
Benign
(Nov 05, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001039305.1
Submitted: (Mar 14, 2019)
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: SCV001307263.1
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)

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 rs139822454...

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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