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NM_198904.4(GABRG2):c.1087C>T (p.Arg363Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 23, 2017
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:
RCV002317098.9

Allele description [Variation Report for NM_198904.4(GABRG2):c.1087C>T (p.Arg363Trp)]

NM_198904.4(GABRG2):c.1087C>T (p.Arg363Trp)

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.1087C>T (p.Arg363Trp)
Other names:
p.R363W:CGG>TGG
HGVS:
  • NC_000005.10:g.162149272C>T
  • NG_009290.1:g.86631C>T
  • NM_000816.3:c.1087C>T
  • NM_001375339.1:c.1078C>T
  • NM_001375340.1:c.923-2458C>T
  • NM_001375341.1:c.1084C>T
  • NM_001375342.1:c.1084C>T
  • NM_001375343.1:c.1207C>T
  • NM_001375344.1:c.1126C>T
  • NM_001375345.1:c.1021C>T
  • NM_001375346.1:c.1021C>T
  • NM_001375347.1:c.1000C>T
  • NM_001375348.1:c.667C>T
  • NM_001375349.1:c.802C>T
  • NM_001375350.1:c.667C>T
  • NM_198903.2:c.1207C>T
  • NM_198904.4:c.1087C>TMANE SELECT
  • NP_000807.2:p.Arg363Trp
  • NP_001362268.1:p.Arg360Trp
  • NP_001362270.1:p.Arg362Trp
  • NP_001362271.1:p.Arg362Trp
  • NP_001362272.1:p.Arg403Trp
  • NP_001362273.1:p.Arg376Trp
  • NP_001362274.1:p.Arg341Trp
  • NP_001362275.1:p.Arg341Trp
  • NP_001362276.1:p.Arg334Trp
  • NP_001362277.1:p.Arg223Trp
  • NP_001362278.1:p.Arg268Trp
  • NP_001362279.1:p.Arg223Trp
  • NP_944493.2:p.Arg403Trp
  • NP_944494.1:p.Arg363Trp
  • NC_000005.9:g.161576278C>T
Protein change:
R223W
Links:
dbSNP: rs374512652
NCBI 1000 Genomes Browser:
rs374512652
Molecular consequence:
  • NM_001375340.1:c.923-2458C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000816.3:c.1087C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375339.1:c.1078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375341.1:c.1084C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375342.1:c.1084C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375343.1:c.1207C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375344.1:c.1126C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375345.1:c.1021C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375346.1:c.1021C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375347.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375348.1:c.667C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375349.1:c.802C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375350.1:c.667C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.1207C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.4:c.1087C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000851691Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 23, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000851691.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.R363W variant (also known as c.1087C>T), located in coding exon 8 of the GABRG2 gene, results from a C to T substitution at nucleotide position 1087. The arginine at codon 363 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 16, 2024