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NM_004588.5(SCN2B):c.129C>T (p.Gly43=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 23, 2021)
Last evaluated:
Oct 18, 2020
Accession:
VCV000508188.5
Variation ID:
508188
Description:
single nucleotide variant
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NM_004588.5(SCN2B):c.129C>T (p.Gly43=)

Allele ID
504078
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 118168693 (GRCh38) GRCh38 UCSC
11: 118039408 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.118168693G>A
NC_000011.9:g.118039408G>A
NG_042217.1:g.12930C>T
NM_004588.5:c.129C>T MANE Select NP_004579.1:p.Gly43= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:118168692:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00006
Links
ClinGen: CA6300523
dbSNP: rs150955748
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Oct 18, 2020 RCV000866035.3
Likely benign 1 criteria provided, single submitter Jun 14, 2019 RCV001697367.1
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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
76 104

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 18, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 14
Allele origin: germline
Invitae
Accession: SCV001007076.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 14, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000717250.2
Submitted: (Sep 23, 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 rs150955748...

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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 16, 2021