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NM_001127644.2(GABRA1):c.476+2T>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 25, 2020
Accession:
VCV001068160.1
Variation ID:
1068160
Description:
single nucleotide variant
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NM_001127644.2(GABRA1):c.476+2T>A

Allele ID
1055485
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 161873339 (GRCh38) GRCh38 UCSC
5: 161300345 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.161873339T>A
NC_000005.9:g.161300345T>A
NM_001127644.2:c.476+2T>A MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:161873338:T:A
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 Jul 25, 2020 RCV001379621.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GABRA1 Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
383 409

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 25, 2020)
criteria provided, single submitter
Method: clinical testing
Epilepsy, childhood absence 4
Epilepsy, juvenile myoclonic 5
Idiopathic generalized epilepsy
Allele origin: germline
Invitae
Accession: SCV001577454.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects a donor splice site in intron 6 of the GABRA1 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 mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Maljevic S Annals of neurology 2006 PMID: 16718694
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Record last updated May 13, 2021