NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 10, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000255903.1

Allele description [Variation Report for NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)]

NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)

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.640C>T (p.Arg214Cys)
HGVS:
  • NC_000005.10:g.161882638C>T
  • NG_011548.1:g.40448C>T
  • NM_000806.5:c.640C>T
  • NM_001127643.2:c.640C>T
  • NM_001127644.2:c.640C>TMANE SELECT
  • NM_001127645.2:c.640C>T
  • NM_001127648.2:c.640C>T
  • NP_000797.2:p.Arg214Cys
  • NP_001121115.1:p.Arg214Cys
  • NP_001121116.1:p.Arg214Cys
  • NP_001121117.1:p.Arg214Cys
  • NP_001121120.1:p.Arg214Cys
  • NC_000005.9:g.161309644C>T
Protein change:
R214C
Links:
dbSNP: rs727503940
NCBI 1000 Genomes Browser:
rs727503940
Molecular consequence:
  • NM_000806.5:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127643.2:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127644.2:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127645.2:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127648.2:c.640C>T - 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
SCV000321687GeneDxcriteria provided, single submitter
Pathogenic
(Mar 10, 2015)
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, SCV000321687.6

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

Description

The R214C missense change in the GABRA1 gene has not been published as a pathogenic variant, 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. The R214C missense change is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and a missense variant in a nearby residue (D219N) has been reported in association with idiopathic generalized epilepsy (Lachance-Touchette et al., 2011). In silico analysis predicts R214C is probably damaging to the protein structure/function. Additionally, R214C has been previously seen at GeneDx as a de novo mutation in another patient referred for epilepsy testing. Therefore, R214C is considered to be a pathogenic variant.

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

Last Updated: May 10, 2021

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