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NM_198903.2(GABRG2):c.1230T>C (p.Asp410=)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Aug 31, 2016
Accession:
VCV000290404.1
Variation ID:
290404
Description:
single nucleotide variant
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NM_198903.2(GABRG2):c.1230T>C (p.Asp410=)

Allele ID
274641
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 161576301 (GRCh37) GRCh37 UCSC
5: 162149295 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.162149295T>C
NC_000005.9:g.161576301T>C
NM_000816.3:c.1110T>C NP_000807.2:p.Asp370= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:162149294:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA10606763
dbSNP: rs201824364
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 31, 2016 RCV000302871.1
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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
(Aug 31, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000344954.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GABRG2 - - - -

Text-mined citations for rs201824364...

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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 Mar 07, 2021