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

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 8, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000716223.1

Allele description [Variation Report for NM_000814.6(GABRB3):c.1005C>T (p.Gly335=)]

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

Gene:
GABRB3:gamma-aminobutyric acid type A receptor subunit beta3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q12
Genomic location:
Preferred name:
NM_000814.6(GABRB3):c.1005C>T (p.Gly335=)
HGVS:
  • NC_000015.10:g.26561007G>A
  • NG_012836.1:g.217774C>T
  • NM_000814.6:c.1005C>TMANE SELECT
  • NM_001191320.2:c.750C>T
  • NM_001191321.3:c.792C>T
  • NM_001278631.2:c.750C>T
  • NM_021912.5:c.1005C>T
  • NP_000805.1:p.Gly335=
  • NP_001178249.1:p.Gly250=
  • NP_001178250.1:p.Gly264=
  • NP_001265560.1:p.Gly250=
  • NP_068712.1:p.Gly335=
  • NC_000015.9:g.26806154G>A
  • NM_000814.5:c.1005C>T
  • NM_021912.4:c.1005C>T
Links:
dbSNP: rs74907974
NCBI 1000 Genomes Browser:
rs74907974
Molecular consequence:
  • NM_000814.6:c.1005C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001191320.2:c.750C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001191321.3:c.792C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278631.2:c.750C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_021912.5:c.1005C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000847060Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Benign
(Aug 8, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000847060.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 10, 2024