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

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Mar 1, 2021
Accession:
VCV000423880.3
Variation ID:
423880
Description:
single nucleotide variant
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NM_198903.2(GABRG2):c.649C>T (p.Gln217Ter)

Allele ID
406689
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 162102571 (GRCh38) GRCh38 UCSC
5: 161529577 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.162102571C>T
NC_000005.9:g.161529577C>T
NM_198903.2:c.649C>T NP_944493.2:p.Gln217Ter nonsense
... more HGVS
Protein change
Q217*
Other names
-
Canonical SPDI
NC_000005.10:162102570:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00005
Links
ClinGen: CA16618159
dbSNP: rs886645578
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Mar 1, 2021 RCV000480836.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GABRG2 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
381 409

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 03, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000573631.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
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 … (more)
Uncertain significance
(Mar 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001747433.1
Submitted: (Jul 04, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs886645578...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 13, 2021