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NM_198904.4(GABRG2):c.919T>G (p.Leu307Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 15, 2021
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:
RCV001857614.3

Allele description [Variation Report for NM_198904.4(GABRG2):c.919T>G (p.Leu307Val)]

NM_198904.4(GABRG2):c.919T>G (p.Leu307Val)

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_198904.4(GABRG2):c.919T>G (p.Leu307Val)
Other names:
p.L307V:TTA>GTA
HGVS:
  • NC_000005.10:g.162142313T>G
  • NG_009290.1:g.79672T>G
  • NM_000816.3:c.919T>G
  • NM_001375339.1:c.910T>G
  • NM_001375340.1:c.919T>G
  • NM_001375341.1:c.916T>G
  • NM_001375342.1:c.916T>G
  • NM_001375343.1:c.1039T>G
  • NM_001375344.1:c.958T>G
  • NM_001375345.1:c.853T>G
  • NM_001375346.1:c.853T>G
  • NM_001375347.1:c.832T>G
  • NM_001375348.1:c.499T>G
  • NM_001375349.1:c.634T>G
  • NM_001375350.1:c.499T>G
  • NM_198903.2:c.1039T>G
  • NM_198904.4:c.919T>GMANE SELECT
  • NP_000807.2:p.Leu307Val
  • NP_001362268.1:p.Leu304Val
  • NP_001362269.1:p.Leu307Val
  • NP_001362270.1:p.Leu306Val
  • NP_001362271.1:p.Leu306Val
  • NP_001362272.1:p.Leu347Val
  • NP_001362273.1:p.Leu320Val
  • NP_001362274.1:p.Leu285Val
  • NP_001362275.1:p.Leu285Val
  • NP_001362276.1:p.Leu278Val
  • NP_001362277.1:p.Leu167Val
  • NP_001362278.1:p.Leu212Val
  • NP_001362279.1:p.Leu167Val
  • NP_944493.2:p.Leu347Val
  • NP_944494.1:p.Leu307Val
  • NC_000005.9:g.161569319T>G
Protein change:
L167V
Links:
dbSNP: rs796052509
NCBI 1000 Genomes Browser:
rs796052509
Molecular consequence:
  • NM_000816.3:c.919T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375339.1:c.910T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375340.1:c.919T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375341.1:c.916T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375342.1:c.916T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375343.1:c.1039T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375344.1:c.958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375345.1:c.853T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375346.1:c.853T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375347.1:c.832T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375348.1:c.499T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375349.1:c.634T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375350.1:c.499T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.1039T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.4:c.919T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epilepsy, childhood absence 2 (ECA2)
Identifiers:
MedGen: C1843244; Orphanet: 64280
Name:
Febrile seizures, familial, 8 (FEB8)
Synonyms:
CONVULSIONS, FAMILIAL FEBRILE, 8
Identifiers:
MONDO: MONDO:0011891; MedGen: C1969810; Orphanet: 36387; OMIM: 607681

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002286356Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Sep 15, 2021)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.

Lindy AS, Stosser MB, Butler E, Downtain-Pickersgill C, Shanmugham A, Retterer K, Brandt T, Richard G, McKnight DA.

Epilepsia. 2018 May;59(5):1062-1071. doi: 10.1111/epi.14074. Epub 2018 Apr 14.

PubMed [citation]
PMID:
29655203

Increasing the diagnostic yield of exome sequencing by copy number variant analysis.

Marchuk DS, Crooks K, Strande N, Kaiser-Rogers K, Milko LV, Brandt A, Arreola A, Tilley CR, Bizon C, Vora NL, Wilhelmsen KC, Evans JP, Berg JS.

PLoS One. 2018;13(12):e0209185. doi: 10.1371/journal.pone.0209185.

PubMed [citation]
PMID:
30557390
PMCID:
PMC6296659
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002286356.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GABRG2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 205548). This missense change has been observed in individual(s) with clinical features of GABRG2-related conditions (PMID: 29655203, 30557390). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 307 of the GABRG2 protein (p.Leu307Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024