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NM_000814.6(GABRB3):c.1005C>T (p.Gly335=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 30, 2018)
Last evaluated:
Jan 3, 2018
Accession:
VCV000256817.1
Variation ID:
256817
Description:
single nucleotide variant
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NM_000814.6(GABRB3):c.1005C>T (p.Gly335=)

Allele ID
255128
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q12
Genomic location
15: 26561007 (GRCh38) GRCh38 UCSC
15: 26806154 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.26561007G>A
NC_000015.9:g.26806154G>A
NM_000814.6:c.1005C>T NP_000805.1:p.Gly335= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.01098 (A)

Allele frequency
1000 Genomes Project 0.01098
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01061
Trans-Omics for Precision Medicine (TOPMed) 0.00980
Links
dbSNP: rs74907974
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jan 26, 2016 RCV000251346.2
Benign 1 criteria provided, single submitter Jan 3, 2018 RCV000458583.3
Benign 1 criteria provided, single submitter Aug 8, 2016 RCV000716223.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GABRB3 No evidence available No evidence available GRCh38
GRCh37
153 452

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics
Accession: SCV000305544.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 26, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000523068.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)
Benign
(Jan 03, 2018)
criteria provided, single submitter
Method: clinical testing
Epilepsy, childhood absence 5
Epilepsy, childhood absence 1
Allele origin: germline
Invitae
Accession: SCV000560914.3
Submitted: (Apr 02, 2018)
Evidence details
Benign
(Aug 08, 2016)
criteria provided, single submitter
Method: clinical testing
Seizures
Allele origin: germline
Ambry Genetics
Accession: SCV000847060.1
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence ... (more)

Citations for this variant

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

Record last updated Oct 04, 2019