U.S. flag

An official website of the United States government

  • delete

NM_198903.2(GABRG2):c.-154C>T AND Severe myoclonic epilepsy in infancy

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 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:
RCV000341647.1

Allele description

NM_198903.2(GABRG2):c.-154C>T

Gene:
GABRG2:gamma-aminobutyric acid type A receptor subunit gamma2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q34
Genomic location:
Preferred name:
NM_198903.2(GABRG2):c.-154C>T
HGVS:
  • NC_000005.10:g.162067846C>T
  • NG_009290.1:g.5205C>T
  • NM_000816.3:c.-154C>T
  • NM_198903.2:c.-154C>T
  • NM_198904.2:c.-154C>T
  • NC_000005.9:g.161494852C>T
Links:
dbSNP: rs3219203
NCBI 1000 Genomes Browser:
rs3219203
Molecular consequence:
  • NM_000816.3:c.-154C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_198903.2:c.-154C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_198904.2:c.-154C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Severe myoclonic epilepsy in infancy (EIEE6)
Synonyms:
Epilepsy, Myoclonic, Infantile, Severe; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome); See all synonyms [MedGen]
Identifiers:
MedGen: C4551549; Orphanet: 33069; OMIM: 607208

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000456054Illumina Clinical Services Laboratory,Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000456054.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 16, 2020