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NM_198903.2(GABRG2):c.1232A>C (p.Lys411Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Oct 4, 2021)
Last evaluated:
Aug 1, 2021
Accession:
VCV000205553.3
Variation ID:
205553
Description:
single nucleotide variant
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NM_198903.2(GABRG2):c.1232A>C (p.Lys411Thr)

Allele ID
201897
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q34
Genomic location
5: 162149297 (GRCh38) GRCh38 UCSC
5: 161576303 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.162149297A>C
NC_000005.9:g.161576303A>C
NG_009290.1:g.86656A>C
... more HGVS
Protein change
K371T, K411T
Other names
p.K371T:AAA>ACA
Canonical SPDI
NC_000005.10:162149296:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA314744
dbSNP: rs796052512
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 Aug 1, 2021 RCV000187535.4
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000764588.1
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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
(Jan 25, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000241129.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Lys371Thr (AAA>ACA): c.1112 A>C in exon 8 of the GABRG2 gene (NM_000816.3) The K371T variant has not been published as a mutation, nor has it … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Epilepsy, childhood absence 2
Epilepsy, childhood absence 2
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000895683.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Aug 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001961919.1
Submitted: (Oct 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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Title Author Journal Year Link
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs796052512...

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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 Oct 08, 2021