NM_001127644.2(GABRA1):c.268G>C (p.Asp90His) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 13, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001127644.2(GABRA1):c.268G>C (p.Asp90His)]

NM_001127644.2(GABRA1):c.268G>C (p.Asp90His)

GABRA1:gamma-aminobutyric acid type A receptor subunit alpha1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001127644.2(GABRA1):c.268G>C (p.Asp90His)
Other names:
  • NC_000005.10:g.161873129G>C
  • NG_011548.1:g.30939G>C
  • NM_000806.5:c.268G>C
  • NM_001127643.2:c.268G>C
  • NM_001127644.2:c.268G>CMANE SELECT
  • NM_001127645.2:c.268G>C
  • NM_001127648.2:c.268G>C
  • NP_000797.2:p.Asp90His
  • NP_001121115.1:p.Asp90His
  • NP_001121116.1:p.Asp90His
  • NP_001121117.1:p.Asp90His
  • NP_001121120.1:p.Asp90His
  • NC_000005.9:g.161300135G>C
Protein change:
dbSNP: rs796052488
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000806.5:c.268G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127643.2:c.268G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127644.2:c.268G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127645.2:c.268G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127648.2:c.268G>C - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000241088GeneDxcriteria provided, single submitter
(Jun 13, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000241088.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


p.Asp90His (GAT>CAT): c.268 G>C in exon 6 of the GABRA1 gene (NM_000806.5). The Asp90His missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Asp90His is a non-conservative amino acid substitution as a negatively charged Aspartic acid residue is replaced by a positively charged Histidine residue. The change occurs at a highly conserved position in the extracellular domain of the GABRA1 protein, and multiple in silico algorithms predict that Asp90His is possibly damaging to the structure/function of the GABRA1 protein. Based on the currently available information, Asp90His is a strong candidate for a disease-causing mutation, although the possibility that it is a benign variant cannot be excluded. The variant is found in EPILEPSY panel(s).

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 7, 2021

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