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NM_004588.5(SCN2B):c.410G>A (p.Arg137His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 10, 2016)
Last evaluated:
Mar 1, 2016
Accession:
VCV000239959.1
Variation ID:
239959
Description:
single nucleotide variant
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NM_004588.5(SCN2B):c.410G>A (p.Arg137His)

Allele ID
241059
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 118168123 (GRCh38) GRCh38 UCSC
11: 118038838 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.118168123C>T
NC_000011.9:g.118038838C>T
NG_042217.1:g.13500G>A
NM_004588.5:c.410G>A MANE Select NP_004579.1:p.Arg137His missense
Protein change
R137H
Other names
-
Canonical SPDI
NC_000011.10:118168122:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD) 0.00013
Links
ClinGen: CA10582875
dbSNP: rs878854712
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 1, 2016 RCV000232198.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN2B - - GRCh38
GRCh37
77 106

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Mar 01, 2016)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 14
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000288615.2
Submitted: (Jun 10, 2016)
Comment:
This sequence change replaces arginine with histidine at codon 137 of the SCN2B protein (p.Arg137His). The arginine residue is highly conserved and there is a … (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 rs878854712...

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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 Jan 08, 2022