NM_198904.4(GABRG2):c.1088G>A (p.Arg363Gln) AND multiple conditions

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 8, 2018
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:: RCV000645378.2

Allele description

NM_198904.4(GABRG2):c.1088G>A (p.Arg363Gln)

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.1088G>A (p.Arg363Gln)

Other names:

p.R363Q:CGG>CAG

HGVS:

NC_000005.10:g.162149273G>A
NG_009290.1:g.86632G>A
NM_000816.3:c.1088G>A
NM_001375339.1:c.1079G>A
NM_001375340.1:c.923-2457G>A
NM_001375341.1:c.1085G>A
NM_001375342.1:c.1085G>A
NM_001375343.1:c.1208G>A
NM_001375344.1:c.1127G>A
NM_001375345.1:c.1022G>A
NM_001375346.1:c.1022G>A
NM_001375347.1:c.1001G>A
NM_001375348.1:c.668G>A
NM_001375349.1:c.803G>A
NM_001375350.1:c.668G>A
NM_198903.2:c.1208G>A
NM_198904.4:c.1088G>AMANE SELECT
NP_000807.2:p.Arg363Gln
NP_001362268.1:p.Arg360Gln
NP_001362270.1:p.Arg362Gln
NP_001362271.1:p.Arg362Gln
NP_001362272.1:p.Arg403Gln
NP_001362273.1:p.Arg376Gln
NP_001362274.1:p.Arg341Gln
NP_001362275.1:p.Arg341Gln
NP_001362276.1:p.Arg334Gln
NP_001362277.1:p.Arg223Gln
NP_001362278.1:p.Arg268Gln
NP_001362279.1:p.Arg223Gln
NP_944493.2:p.Arg403Gln
NP_944494.1:p.Arg363Gln
NC_000005.9:g.161576279G>A

Protein change:

R223Q

Links:

dbSNP: rs780199000

NCBI 1000 Genomes Browser:

rs780199000

Molecular consequence:

NM_001375340.1:c.923-2457G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000816.3:c.1088G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375339.1:c.1079G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375341.1:c.1085G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375342.1:c.1085G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375343.1:c.1208G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375344.1:c.1127G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375345.1:c.1022G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375346.1:c.1022G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375347.1:c.1001G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375348.1:c.668G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375349.1:c.803G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375350.1:c.668G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198903.2:c.1208G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198904.4:c.1088G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Epilepsy, childhood absence 2 (ECA2)
Identifiers:: MedGen: C1843244; Orphanet: 64280

Name:: Familial febrile seizures 8 (FEB8)
Synonyms:: CONVULSIONS, FAMILIAL FEBRILE, 8
Identifiers:: MONDO: MONDO:0011891; MedGen: C1969810; Orphanet: 36387; OMIM: 607681

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000767123	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 8, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21425109, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000767123

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 8, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

[Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus].

Cantarín-Extremera V, García-Peñas JJ, Gutiérrez-Solana LG, García-Fernández M, Ruiz-Falcó ML, Duat-Rodríguez A, López-Marín L.

Rev Neurol. 2011 Apr 1;52(7):404-11. Spanish.

PubMed [citation]

PMID:: 21425109

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000767123.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This sequence change replaces arginine with glutamine at codon 363 of the GABRG2 protein (p.Arg363Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs780199000, ExAC 0.001%). This variant has been reported in an individual affected with epilepsy and febrile seizures (PMID: 21425109). ClinVar contains an entry for this variant (Variation ID: 205564). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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