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NM_198904.4(GABRG2):c.1360C>T (p.Arg454Trp) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 2, 2013
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:
RCV000187538.3

Allele description [Variation Report for NM_198904.4(GABRG2):c.1360C>T (p.Arg454Trp)]

NM_198904.4(GABRG2):c.1360C>T (p.Arg454Trp)

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.1360C>T (p.Arg454Trp)
Other names:
p.R446W:CGG>TGG
HGVS:
  • NC_000005.10:g.162153300C>T
  • NG_009290.1:g.90659C>T
  • NM_000816.3:c.1336C>T
  • NM_001375339.1:c.1351C>T
  • NM_001375340.1:c.*194C>T
  • NM_001375341.1:c.1357C>T
  • NM_001375342.1:c.1333C>T
  • NM_001375343.1:c.1456C>T
  • NM_001375344.1:c.1399C>T
  • NM_001375345.1:c.1270C>T
  • NM_001375346.1:c.1294C>T
  • NM_001375347.1:c.1273C>T
  • NM_001375348.1:c.916C>T
  • NM_001375349.1:c.1051C>T
  • NM_001375350.1:c.940C>T
  • NM_198903.2:c.1480C>T
  • NM_198904.4:c.1360C>TMANE SELECT
  • NP_000807.2:p.Arg446Trp
  • NP_001362268.1:p.Arg451Trp
  • NP_001362270.1:p.Arg453Trp
  • NP_001362271.1:p.Arg445Trp
  • NP_001362272.1:p.Arg486Trp
  • NP_001362273.1:p.Arg467Trp
  • NP_001362274.1:p.Arg424Trp
  • NP_001362275.1:p.Arg432Trp
  • NP_001362276.1:p.Arg425Trp
  • NP_001362277.1:p.Arg306Trp
  • NP_001362278.1:p.Arg351Trp
  • NP_001362279.1:p.Arg314Trp
  • NP_944493.2:p.Arg494Trp
  • NP_944494.1:p.Arg454Trp
  • NC_000005.9:g.161580306C>T
Protein change:
R306W
Links:
dbSNP: rs796052515
NCBI 1000 Genomes Browser:
rs796052515
Molecular consequence:
  • NM_001375340.1:c.*194C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000816.3:c.1336C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375339.1:c.1351C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375341.1:c.1357C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375342.1:c.1333C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375343.1:c.1456C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375344.1:c.1399C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375345.1:c.1270C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375346.1:c.1294C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375347.1:c.1273C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375348.1:c.916C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375349.1:c.1051C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375350.1:c.940C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.1480C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.4:c.1360C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000241132GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(May 2, 2013)
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, SCV000241132.10

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

Description

p.Arg446Trp (CGG>TGG): c.1336 C>T in exon 9 of the GABRG2 gene (NM_000816.3) The Arg446Trp missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Arg446Trp in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as a positively charged, polar Arginine residue is replaced by an uncharged non-polar Tryptophan residue and multiple in-silico algorithms predict it may be damaging to the structure/function of the protein. However, while Arg446Trp alters a highly conserved position in the fourth transmembrane domain in the GABRG2 protein, other missense mutations have not been reported in this region of the protein. Therefore, based on the currently available information, Arg446Trp is interpreted as pathogenic. This variant has been observed de novo without verified parentage. The variant is found in INFANT-EPI panel(s).

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

Last Updated: Mar 5, 2024