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NM_198903.2(GABRG2):c.1276C>T (p.Pro426Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 15, 2020
Accession:
VCV000423505.4
Variation ID:
423505
Description:
single nucleotide variant
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NM_198903.2(GABRG2):c.1276C>T (p.Pro426Ser)

Allele ID
406691
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 162153096 (GRCh38) GRCh38 UCSC
5: 161580102 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.162153096C>T
NC_000005.9:g.161580102C>T
NG_009290.1:g.90455C>T
... more HGVS
Protein change
P378S, P426S, P386S
Other names
-
Canonical SPDI
NC_000005.10:162153095:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA3544967
dbSNP: rs757311213
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 Jan 13, 2017 RCV000483452.2
Uncertain significance 1 criteria provided, single submitter Feb 13, 2017 RCV000766325.1
Uncertain significance 1 criteria provided, single submitter Jul 15, 2020 RCV001219636.2
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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
Uncertain significance
(Jan 13, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613372.1
Submitted: (Aug 17, 2017)
Evidence details
Uncertain significance
(Feb 13, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000573211.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A variant of uncertain significance has been identified in the GABRG2 gene. The P378S variant has not been published as a pathogenic variant, nor has … (more)
Uncertain significance
(Jul 15, 2020)
criteria provided, single submitter
Method: clinical testing
Familial febrile seizures 8
Epilepsy, childhood absence 2
Allele origin: germline
Invitae
Accession: SCV001391584.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces proline with serine at codon 378 of the GABRG2 protein (p.Pro378Ser). The proline 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 rs757311213...

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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