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NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 11, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000623344.12

Allele description [Variation Report for NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)]

NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)

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.335G>A (p.Arg112Gln)
Other names:
p.R112Q:CGG>CAG
HGVS:
  • NC_000005.10:g.161873196G>A
  • NG_011548.1:g.31006G>A
  • NM_000806.5:c.335G>A
  • NM_001127643.2:c.335G>A
  • NM_001127644.2:c.335G>AMANE SELECT
  • NM_001127645.2:c.335G>A
  • NM_001127648.2:c.335G>A
  • NP_000797.2:p.Arg112Gln
  • NP_000797.2:p.Arg112Gln
  • NP_001121115.1:p.Arg112Gln
  • NP_001121116.1:p.Arg112Gln
  • NP_001121117.1:p.Arg112Gln
  • NP_001121120.1:p.Arg112Gln
  • NC_000005.9:g.161300202G>A
  • P14867:p.Arg112Gln
Protein change:
R112Q; ARG112GLN
Links:
UniProtKB: P14867#VAR_071809; OMIM: 137160.0004; dbSNP: rs587777308
NCBI 1000 Genomes Browser:
rs587777308
Molecular consequence:
  • NM_000806.5:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127643.2:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127644.2:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127645.2:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127648.2:c.335G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000847991Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 11, 2016) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, et al.

Neurology. 2014 Apr 8;82(14):1245-53. doi: 10.1212/WNL.0000000000000291. Epub 2014 Mar 12.

PubMed [citation]
PMID:
24623842
PMCID:
PMC4001207

Details of each submission

From Ambry Genetics, SCV000847991.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.R112Q pathogenic mutation (also known as c.335G>A), located in coding exon 4 of the GABRA1 gene, results from a G to A substitution at nucleotide position 335. The arginine at codon 112 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been determined to be the result of a de novo mutation in one individual with epileptic encephalopathy in our laboratory. In addition, this variant has been reported in two individuals in the literature with epileptic encephalopathy, one of which was reportedly de novo (Carvill GL et al. Neurology, 2014 Apr;82:1245-53). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 13, 2024