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NM_198903.2(GABRG2):c.1149C>G (p.Phe383Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Aug 14, 2013
Accession:
VCV000205551.2
Variation ID:
205551
Description:
single nucleotide variant
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NM_198903.2(GABRG2):c.1149C>G (p.Phe383Leu)

Allele ID
201894
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 162149214 (GRCh38) GRCh38 UCSC
5: 161576220 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.162149214C>G
NC_000005.9:g.161576220C>G
NM_000816.3:c.1029C>G NP_000807.2:p.Phe343Leu missense
... more HGVS
Protein change
F343L, F383L
Other names
p.F343L:TTC>TTG
Canonical SPDI
NC_000005.10:162149213:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA314738
dbSNP: rs796052511
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 14, 2013 RCV000187533.1
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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 14, 2013)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000241127.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Phe343Leu (TTC>TTG): c.1029 C>G in exon 8 of the GABRG2 gene (NM_000816.3) The Phe343Leu missense change has not been published as a mutation, nor has … (more)

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 rs796052511...

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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