NM_198903.2(GABRG2):c.928A>G (p.Arg310Gly) AND Inborn genetic diseases

Clinical significance:Likely pathogenic (Last evaluated: Nov 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000623815.2

Allele description [Variation Report for NM_198903.2(GABRG2):c.928A>G (p.Arg310Gly)]

NM_198903.2(GABRG2):c.928A>G (p.Arg310Gly)

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_198903.2(GABRG2):c.928A>G (p.Arg310Gly)
Other names:
p.R270G:AGA>GGA
HGVS:
  • NC_000005.10:g.162142202A>G
  • NG_009290.1:g.79561A>G
  • NM_000816.3:c.808A>G
  • NM_198903.2:c.928A>G
  • NM_198904.2:c.808A>G
  • NP_000807.2:p.Arg270Gly
  • NP_944493.2:p.Arg310Gly
  • NP_944494.1:p.Arg270Gly
  • NC_000005.9:g.161569208A>G
Protein change:
R270G
Links:
dbSNP: rs796052520
NCBI 1000 Genomes Browser:
rs796052520
Molecular consequence:
  • NM_000816.3:c.808A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.2:c.808A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000743077Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Nov 14, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000743077.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 7, 2021

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