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NM_198903.2(GABRG2):c.582G>A (p.Leu194=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 24, 2019
Accession:
VCV000197697.4
Variation ID:
197697
Description:
single nucleotide variant
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NM_198903.2(GABRG2):c.582G>A (p.Leu194=)

Allele ID
194858
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 162101268 (GRCh38) GRCh38 UCSC
5: 161528274 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.162101268G>A
NC_000005.9:g.161528274G>A
NM_000816.3:c.582G>A NP_000807.2:p.Leu194= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:162101267:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA245979
dbSNP: rs781498456
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 Aug 14, 2014 RCV000178808.3
Benign 1 criteria provided, single submitter Jul 24, 2019 RCV001088589.2
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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
(Aug 14, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000230967.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jul 24, 2019)
criteria provided, single submitter
Method: clinical testing
Familial febrile seizures 8
Epilepsy, childhood absence 2
Allele origin: germline
Invitae
Accession: SCV001044250.3
Submitted: (Jan 07, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GABRG2 - - - -

Text-mined citations for rs781498456...

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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 Jun 14, 2021