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NM_198904.4(GABRG2):c.919T>G (p.Leu307Val) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 6, 2012
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:
RCV000187529.2

Allele description [Variation Report for NM_198904.4(GABRG2):c.919T>G (p.Leu307Val)]

NM_198904.4(GABRG2):c.919T>G (p.Leu307Val)

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.919T>G (p.Leu307Val)
Other names:
p.L307V:TTA>GTA
HGVS:
  • NC_000005.10:g.162142313T>G
  • NG_009290.1:g.79672T>G
  • NM_000816.3:c.919T>G
  • NM_001375339.1:c.910T>G
  • NM_001375340.1:c.919T>G
  • NM_001375341.1:c.916T>G
  • NM_001375342.1:c.916T>G
  • NM_001375343.1:c.1039T>G
  • NM_001375344.1:c.958T>G
  • NM_001375345.1:c.853T>G
  • NM_001375346.1:c.853T>G
  • NM_001375347.1:c.832T>G
  • NM_001375348.1:c.499T>G
  • NM_001375349.1:c.634T>G
  • NM_001375350.1:c.499T>G
  • NM_198903.2:c.1039T>G
  • NM_198904.4:c.919T>GMANE SELECT
  • NP_000807.2:p.Leu307Val
  • NP_001362268.1:p.Leu304Val
  • NP_001362269.1:p.Leu307Val
  • NP_001362270.1:p.Leu306Val
  • NP_001362271.1:p.Leu306Val
  • NP_001362272.1:p.Leu347Val
  • NP_001362273.1:p.Leu320Val
  • NP_001362274.1:p.Leu285Val
  • NP_001362275.1:p.Leu285Val
  • NP_001362276.1:p.Leu278Val
  • NP_001362277.1:p.Leu167Val
  • NP_001362278.1:p.Leu212Val
  • NP_001362279.1:p.Leu167Val
  • NP_944493.2:p.Leu347Val
  • NP_944494.1:p.Leu307Val
  • NC_000005.9:g.161569319T>G
Protein change:
L167V
Links:
dbSNP: rs796052509
NCBI 1000 Genomes Browser:
rs796052509
Molecular consequence:
  • NM_000816.3:c.919T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375339.1:c.910T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375340.1:c.919T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375341.1:c.916T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375342.1:c.916T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375343.1:c.1039T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375344.1:c.958T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375345.1:c.853T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375346.1:c.853T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375347.1:c.832T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375348.1:c.499T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375349.1:c.634T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375350.1:c.499T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.1039T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.4:c.919T>G - 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
SCV000241123GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Sep 6, 2012)
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, SCV000241123.11

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

Description

p.Leu307Val (TTA>GTA):c.919 T>G in exon 7 of the GABRG2 gene (NM_000816.3) The Leu307Val 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 Leu307Val in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. Leu307Val alters a highly conserved position in the second transmembrane domain of the GABRG2 protein. The amino acid substitution is conservative, as both Leucine and Valine are uncharged, non-polar amino acids of similar size. While some in silico algorithms predict that Leu307Val is damaging to protein structure/function, other models predict that it is benign. Therefore, the currently available information suggests that L307V is pathogenic. This variant has been observed de novo without verified parentage. The variant is found in EPILEPSY panel(s).

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

Last Updated: Feb 28, 2024