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:
current
Accession:
RCV000187494.2

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

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

Gene:
GABRA1:gamma-aminobutyric acid type A receptor subunit alpha1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q34
Genomic location:
Preferred name:
NM_001127644.2(GABRA1):c.268G>C (p.Asp90His)
Other names:
p.D90H:GAT>CAT
HGVS:
  • 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:
D90H
Links:
dbSNP: rs796052488
NCBI 1000 Genomes Browser:
rs796052488
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]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000241088GeneDxcriteria provided, single submitter
Pathogenic
(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

Description

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).

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

Last Updated: Mar 7, 2021

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