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

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Jun 5, 2024
Review status:
no classifications from unflagged records
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:
RCV000187530.3

Allele description

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_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_198904.4:c.967C>TMANE SELECT
  • 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_944494.1:p.Arg323Trp
  • NC_000005.9:g.161576158C>T
  • NM_198904.2:c.967C>T
  • NM_198904.4:c.967C>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

Help
No clinical assertions found. See "Flagged submissions" below.
Help

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241124GeneDx
flagged submission
Reason: Older and outlier claim with insufficient supporting evidence
Notes: None

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 15, 2014) 		germlineclinical testing

Citation Link

Last Updated: Sep 29, 2024