NM_198903.2(GABRG2):c.868G>A (p.Glu290Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 17, 2017)

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_198903.2(GABRG2):c.868G>A (p.Glu290Lys)]

NM_198903.2(GABRG2):c.868G>A (p.Glu290Lys)

GABRG2:gamma-aminobutyric acid type A receptor subunit gamma2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_198903.2(GABRG2):c.868G>A (p.Glu290Lys)
  • NC_000005.10:g.162104005G>A
  • NG_009290.1:g.41364G>A
  • NM_000816.3:c.748G>A
  • NM_198903.2:c.868G>A
  • NM_198904.2:c.748G>A
  • NP_000807.2:p.Glu250Lys
  • NP_944493.2:p.Glu290Lys
  • NP_944494.1:p.Glu250Lys
  • NC_000005.9:g.161531011G>A
Protein change:
dbSNP: rs549251133
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000816.3:c.748G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.868G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.2:c.748G>A - 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)
SCV000619048GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 17, 2017)
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, SCV000619048.2

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


The E250K variant in the GABRG2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E250K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E250K variant 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 not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E250K as a variant of uncertain significance.

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

Last Updated: Oct 8, 2021

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