NM_198903.2(GABRG2):c.571C>A (p.Gln191Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 21, 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.571C>A (p.Gln191Lys)]

NM_198903.2(GABRG2):c.571C>A (p.Gln191Lys)

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.571C>A (p.Gln191Lys)
  • NC_000005.10:g.162101257C>A
  • NG_009290.1:g.38616C>A
  • NM_000816.3:c.571C>A
  • NM_198903.2:c.571C>A
  • NM_198904.2:c.571C>A
  • NP_000807.2:p.Gln191Lys
  • NP_944493.2:p.Gln191Lys
  • NP_944494.1:p.Gln191Lys
  • NC_000005.9:g.161528263C>A
Protein change:
dbSNP: rs1334776746
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000816.3:c.571C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.571C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.2:c.571C>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)
SCV000618552GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 21, 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, SCV000618552.2

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


A variant of uncertain significance has been identified in the GABRG2 gene. The Q191K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q191K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q191K variant is a a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Mar 7, 2021

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