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NM_198904.4(GABRG2):c.632-2A>T

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 5, 2020
Accession:
VCV001066883.1
Variation ID:
1066883
Description:
single nucleotide variant
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NM_198904.4(GABRG2):c.632-2A>T

Allele ID
1055488
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 161530893 (GRCh37) GRCh37 UCSC
5: 162103887 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001375350.1:c.212-2A>T splice acceptor
NM_001375348.1:c.212-2A>T splice acceptor
NM_001375339.1:c.623-2A>T splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:162103886:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 5, 2020 RCV001378001.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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 pathogenic
(Mar 05, 2020)
criteria provided, single submitter
Method: clinical testing
Familial febrile seizures 8
Epilepsy, childhood absence 2
Allele origin: germline
Invitae
Accession: SCV001575472.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change affects an acceptor splice site in intron 5 of the GABRG2 gene. It is expected to disrupt RNA splicing and likely results … (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
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes. Johnston AJ Neurobiology of disease 2014 PMID: 24407264
The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through. Huang X Neurobiology of disease 2012 PMID: 22750526
The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit. Tian M The Journal of neuroscience : the official journal of the Society for Neuroscience 2012 PMID: 22539854
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Record last updated Oct 08, 2021