NM_198904.4(GABRG2):c.1029C>G (p.Phe343Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 14, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000187533.1

Allele description [Variation Report for NM_198904.4(GABRG2):c.1029C>G (p.Phe343Leu)]

NM_198904.4(GABRG2):c.1029C>G (p.Phe343Leu)

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.1029C>G (p.Phe343Leu)
Other names:
p.F343L:TTC>TTG
HGVS:
  • NC_000005.10:g.162149214C>G
  • NG_009290.1:g.86573C>G
  • NM_000816.3:c.1029C>G
  • NM_000816.3:c.1029C>G
  • NM_001375339.1:c.1020C>G
  • NM_001375340.1:c.923-2516C>G
  • NM_001375341.1:c.1026C>G
  • NM_001375342.1:c.1026C>G
  • NM_001375343.1:c.1149C>G
  • NM_001375344.1:c.1068C>G
  • NM_001375345.1:c.963C>G
  • NM_001375346.1:c.963C>G
  • NM_001375347.1:c.942C>G
  • NM_001375348.1:c.609C>G
  • NM_001375349.1:c.744C>G
  • NM_001375350.1:c.609C>G
  • NM_198903.2:c.1149C>G
  • NM_198904.4:c.1029C>GMANE SELECT
  • NP_000807.2:p.Phe343Leu
  • NP_000807.2:p.Phe343Leu
  • NP_001362268.1:p.Phe340Leu
  • NP_001362270.1:p.Phe342Leu
  • NP_001362271.1:p.Phe342Leu
  • NP_001362272.1:p.Phe383Leu
  • NP_001362273.1:p.Phe356Leu
  • NP_001362274.1:p.Phe321Leu
  • NP_001362275.1:p.Phe321Leu
  • NP_001362276.1:p.Phe314Leu
  • NP_001362277.1:p.Phe203Leu
  • NP_001362278.1:p.Phe248Leu
  • NP_001362279.1:p.Phe203Leu
  • NP_944493.2:p.Phe383Leu
  • NP_944494.1:p.Phe343Leu
  • NC_000005.9:g.161576220C>G
Protein change:
F203L
Links:
dbSNP: rs796052511
NCBI 1000 Genomes Browser:
rs796052511
Molecular consequence:
  • NM_001375340.1:c.923-2516C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000816.3:c.1029C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375339.1:c.1020C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375341.1:c.1026C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375342.1:c.1026C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375343.1:c.1149C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375344.1:c.1068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375345.1:c.963C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375346.1:c.963C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375347.1:c.942C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375348.1:c.609C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375349.1:c.744C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375350.1:c.609C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.1149C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.4:c.1029C>G - 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
SCV000241127GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 14, 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, SCV000241127.11

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

Description

p.Phe343Leu (TTC>TTG): c.1029 C>G in exon 8 of the GABRG2 gene (NM_000816.3) The Phe343Leu missense change 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. This variant is a conservative substitution of one uncharged, non-polar amino acid for another. It alters a conserved position in the third transmembrane domain of the protein. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether Phe343Leu is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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

Last Updated: Oct 25, 2021

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