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NM_198903.2(GABRG2):c.1208G>A (p.Arg403Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Sep 28, 2021)
Last evaluated:
Sep 23, 2020
Accession:
VCV000205564.4
Variation ID:
205564
Description:
single nucleotide variant
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NM_198903.2(GABRG2):c.1208G>A (p.Arg403Gln)

Allele ID
201896
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 162149273 (GRCh38) GRCh38 UCSC
5: 161576279 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.162149273G>A
NC_000005.9:g.161576279G>A
NG_009290.1:g.86632G>A
... more HGVS
Protein change
R363Q, R403Q
Other names
p.R363Q:CGG>CAG
Canonical SPDI
NC_000005.10:162149272:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA314775
dbSNP: rs780199000
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 Sep 23, 2020 RCV000187547.5
Uncertain significance 1 criteria provided, single submitter Nov 8, 2018 RCV000645378.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GABRG2 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
381 409

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 23, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000241141.9
Submitted: (Sep 28, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 21425109, 30660939)
Uncertain significance
(Nov 08, 2018)
criteria provided, single submitter
Method: clinical testing
Familial febrile seizures 8
Epilepsy, childhood absence 2
Allele origin: germline
Invitae
Accession: SCV000767123.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with glutamine at codon 363 of the GABRG2 protein (p.Arg363Gln). 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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Title Author Journal Year Link
[Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus]. Cantarín-Extremera V Revista de neurologia 2011 PMID: 21425109

Text-mined citations for rs780199000...

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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 08, 2021