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NM_198904.4(GABRG2):c.1297C>T (p.Arg433Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 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:
RCV002007291.3

Allele description [Variation Report for NM_198904.4(GABRG2):c.1297C>T (p.Arg433Ter)]

NM_198904.4(GABRG2):c.1297C>T (p.Arg433Ter)

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.1297C>T (p.Arg433Ter)
HGVS:
  • NC_000005.10:g.162153237C>T
  • NG_009290.1:g.90596C>T
  • NM_000816.3:c.1273C>T
  • NM_001375339.1:c.1288C>T
  • NM_001375340.1:c.*131C>T
  • NM_001375341.1:c.1294C>T
  • NM_001375342.1:c.1270C>T
  • NM_001375343.1:c.1393C>T
  • NM_001375344.1:c.1336C>T
  • NM_001375345.1:c.1207C>T
  • NM_001375346.1:c.1231C>T
  • NM_001375347.1:c.1210C>T
  • NM_001375348.1:c.853C>T
  • NM_001375349.1:c.988C>T
  • NM_001375350.1:c.877C>T
  • NM_198903.2:c.1417C>T
  • NM_198904.4:c.1297C>TMANE SELECT
  • NP_000807.2:p.Arg425Ter
  • NP_001362268.1:p.Arg430Ter
  • NP_001362270.1:p.Arg432Ter
  • NP_001362271.1:p.Arg424Ter
  • NP_001362272.1:p.Arg465Ter
  • NP_001362273.1:p.Arg446Ter
  • NP_001362274.1:p.Arg403Ter
  • NP_001362275.1:p.Arg411Ter
  • NP_001362276.1:p.Arg404Ter
  • NP_001362277.1:p.Arg285Ter
  • NP_001362278.1:p.Arg330Ter
  • NP_001362279.1:p.Arg293Ter
  • NP_944493.2:p.Arg473Ter
  • NP_944494.1:p.Arg433Ter
  • NC_000005.9:g.161580243C>T
Protein change:
R285*
Links:
dbSNP: rs1554101224
NCBI 1000 Genomes Browser:
rs1554101224
Molecular consequence:
  • NM_001375340.1:c.*131C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000816.3:c.1273C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375339.1:c.1288C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375341.1:c.1294C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375342.1:c.1270C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375343.1:c.1393C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375344.1:c.1336C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375345.1:c.1207C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375346.1:c.1231C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375347.1:c.1210C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375348.1:c.853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375349.1:c.988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001375350.1:c.877C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198903.2:c.1417C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198904.4:c.1297C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002227683Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Nov 30, 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

Clinical application of whole-exome sequencing across clinical indications.

Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S.

Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3.

PubMed [citation]
PMID:
26633542

SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.

Sun H, Zhang Y, Liang J, Liu X, Ma X, Wu H, Xu K, Qin J, Qi Y, Wu X.

J Hum Genet. 2008;53(8):769-774. doi: 10.1007/s10038-008-0306-y. Epub 2008 Jun 20.

PubMed [citation]
PMID:
18566737
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002227683.3

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

Description

This premature translational stop signal has been observed in individual(s) with GABRG2-related conditions (PMID: 26633542). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GABRG2 protein in which other variant(s) (p.Trp429*) have been determined to be pathogenic (PMID: 18566737). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg425*) in the GABRG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 43 amino acid(s) of the GABRG2 protein.

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

Last Updated: Mar 16, 2024