NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Dec 15, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000187530.1

Allele description [Variation Report for NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp)]

NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp)

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.967C>T (p.Arg323Trp)
Other names:
p.R323W:CGG>TGG
HGVS:
  • NC_000005.10:g.162149152C>T
  • NG_009290.1:g.86511C>T
  • NM_000816.3:c.967C>T
  • NM_000816.3:c.967C>T
  • NM_001375339.1:c.958C>T
  • NM_001375340.1:c.923-2578C>T
  • NM_001375341.1:c.964C>T
  • NM_001375342.1:c.964C>T
  • NM_001375343.1:c.1087C>T
  • NM_001375344.1:c.1006C>T
  • NM_001375345.1:c.901C>T
  • NM_001375346.1:c.901C>T
  • NM_001375347.1:c.880C>T
  • NM_001375348.1:c.547C>T
  • NM_001375349.1:c.682C>T
  • NM_001375350.1:c.547C>T
  • NM_198903.2:c.1087C>T
  • NM_198903.2:c.1087C>T
  • NM_198904.4:c.967C>TMANE SELECT
  • NP_000807.2:p.Arg323Trp
  • NP_000807.2:p.Arg323Trp
  • NP_001362268.1:p.Arg320Trp
  • NP_001362270.1:p.Arg322Trp
  • NP_001362271.1:p.Arg322Trp
  • NP_001362272.1:p.Arg363Trp
  • NP_001362273.1:p.Arg336Trp
  • NP_001362274.1:p.Arg301Trp
  • NP_001362275.1:p.Arg301Trp
  • NP_001362276.1:p.Arg294Trp
  • NP_001362277.1:p.Arg183Trp
  • NP_001362278.1:p.Arg228Trp
  • NP_001362279.1:p.Arg183Trp
  • NP_944493.2:p.Arg363Trp
  • NP_944493.2:p.Arg363Trp
  • NP_944494.1:p.Arg323Trp
  • NC_000005.9:g.161576158C>T
  • NC_000005.9:g.161576158C>T
Protein change:
R183W
Links:
dbSNP: rs796052510
NCBI 1000 Genomes Browser:
rs796052510
Molecular consequence:
  • NM_001375340.1:c.923-2578C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000816.3:c.967C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375339.1:c.958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375341.1:c.964C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375342.1:c.964C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375343.1:c.1087C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375344.1:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375345.1:c.901C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375346.1:c.901C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375347.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375348.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375349.1:c.682C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375350.1:c.547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.1087C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.4:c.967C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000241124GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 15, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241124.3

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

Description

p.Arg323Trp (CGG>TGG): c.967 C>T in exon 8 of the GABRG2 gene (NM_000816.3) The R323W variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R323W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals; however, Tryptophan is observed at this position in a more distantly related species. In silico analysis is inconsistent in its predictions as to whether or not the R323W variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).

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

Last Updated: Oct 25, 2021

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