NM_198904.4(GABRG2):c.1088G>A (p.Arg363Gln) AND not provided

Clinical significance:Likely benign (Last evaluated: Sep 23, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000187547.5

Allele description [Variation Report for NM_198904.4(GABRG2):c.1088G>A (p.Arg363Gln)]

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_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_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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000241141GeneDxcriteria provided, single submitter
Likely benign
(Sep 23, 2020)
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, SCV000241141.9

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

Description

This variant is associated with the following publications: (PMID: 21425109, 30660939)

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

Last Updated: Oct 25, 2021

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