NM_198903.2(GABRG2):c.649C>T (p.Gln217Ter) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000480836.2

Allele description [Variation Report for NM_198903.2(GABRG2):c.649C>T (p.Gln217Ter)]

NM_198903.2(GABRG2):c.649C>T (p.Gln217Ter)

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.649C>T (p.Gln217Ter)
HGVS:
  • NC_000005.10:g.162102571C>T
  • NG_009290.1:g.39930C>T
  • NM_000816.3:c.631+1254C>T
  • NM_198903.2:c.649C>T
  • NM_198904.2:c.631+1254C>T
  • NP_944493.2:p.Gln217Ter
  • NC_000005.9:g.161529577C>T
Protein change:
Q217*
Links:
dbSNP: rs886645578
NCBI 1000 Genomes Browser:
rs886645578
Molecular consequence:
  • NM_000816.3:c.631+1254C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198904.2:c.631+1254C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198903.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000573631GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 3, 2017)
germlineclinical testing

Citation Link,

SCV001747433CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Mar 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000573631.4

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

Description

The Q217X variant in the GABRG2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, the Q217X variant alters a position in an alternate transcript of the gene (NM_198903.2), and pathogenic variants in this transcript have not been previously reported in individuals with seizures. Adequate data is not available in large population cohorts to assess the frequency of this variant in publicly available databases; however, this variant has not been detected at a significant frequency in presumably healthy individuals tested at GeneDx. We interpret Q217X as a variant of uncertain significance.

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001747433.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 13, 2021

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