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:
current
Accession:
RCV000521260.1

Allele description [Variation Report for NM_198903.2(GABRG2):c.868G>A (p.Glu290Lys)]

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

Gene:
GABRG2:gamma-aminobutyric acid type A receptor subunit gamma2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q34
Genomic location:
Preferred name:
NM_198903.2(GABRG2):c.868G>A (p.Glu290Lys)
HGVS:
  • 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:
E250K
Links:
dbSNP: rs549251133
NCBI 1000 Genomes Browser:
rs549251133
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]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
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

Description

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.

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

Last Updated: Oct 8, 2021

Support Center