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NM_004588.5(SCN2B):c.640G>A (p.Ala214Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 24, 2020
Accession:
VCV000947137.2
Variation ID:
947137
Description:
single nucleotide variant
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NM_004588.5(SCN2B):c.640G>A (p.Ala214Thr)

Allele ID
926135
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 118166895 (GRCh38) GRCh38 UCSC
11: 118037610 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.118166895C>T
NC_000011.9:g.118037610C>T
NG_042217.1:g.14728G>A
NM_004588.5:c.640G>A MANE Select NP_004579.1:p.Ala214Thr missense
Protein change
A214T
Other names
-
Canonical SPDI
NC_000011.10:118166894:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00007
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00005
The Genome Aggregation Database (gnomAD) 0.00008
Links
dbSNP: rs200264107
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 Sep 24, 2020 RCV001218141.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Sep 24, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 14
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001390013.2
Submitted: (Jan 07, 2021)
Publications:
PubMed (1)
PubMed: 28166811
Comment:
This sequence change replaces alanine with threonine at codon 214 of the SCN2B protein (p.Ala214Thr). The alanine residue is weakly 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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Title Author Journal Year Link
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. Kobayashi Y Genome medicine 2017 PMID: 28166811

Text-mined citations for rs200264107...

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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