NM_198903.2(GABRG2):c.1A>G (p.Met1Val) AND Epilepsy, childhood absence 2

Clinical significance:Uncertain significance (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000987628.1

Allele description [Variation Report for NM_198903.2(GABRG2):c.1A>G (p.Met1Val)]

NM_198903.2(GABRG2):c.1A>G (p.Met1Val)

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.1A>G (p.Met1Val)
HGVS:
  • NC_000005.10:g.162068000A>G
  • NG_009290.1:g.5359A>G
  • NM_000816.3:c.1A>G
  • NM_001375339.1:c.1A>G
  • NM_001375340.1:c.1A>G
  • NM_001375341.1:c.1A>G
  • NM_001375342.1:c.1A>G
  • NM_001375343.1:c.1A>G
  • NM_001375344.1:c.1A>G
  • NM_001375345.1:c.-3-63A>G
  • NM_001375346.1:c.-3-63A>G
  • NM_001375347.1:c.20+359A>G
  • NM_001375348.1:c.-358A>G
  • NM_001375349.1:c.-406A>G
  • NM_001375350.1:c.-358A>G
  • NM_198903.2:c.1A>G
  • NM_198904.3:c.1A>G
  • NP_000807.2:p.Met1Val
  • NP_001362268.1:p.Met1Val
  • NP_001362269.1:p.Met1Val
  • NP_001362270.1:p.Met1Val
  • NP_001362271.1:p.Met1Val
  • NP_001362272.1:p.Met1Val
  • NP_001362273.1:p.Met1Val
  • NP_944493.2:p.Met1Val
  • NP_944494.1:p.Met1Val
  • NC_000005.9:g.161495006A>G
Protein change:
M1V
Links:
dbSNP: rs1581275976
NCBI 1000 Genomes Browser:
rs1581275976
Molecular consequence:
  • NM_001375348.1:c.-358A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001375349.1:c.-406A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001375350.1:c.-358A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000816.3:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001375339.1:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001375340.1:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001375341.1:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001375342.1:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001375343.1:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001375344.1:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_198903.2:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_198904.3:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001375345.1:c.-3-63A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375346.1:c.-3-63A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001375347.1:c.20+359A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000816.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375339.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375340.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375341.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375342.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375343.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375344.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epilepsy, childhood absence 2 (ECA2)
Synonyms:
Febrile seizures, familial, 8
Identifiers:
MONDO: MONDO:0011891; MedGen: C1843244; Orphanet: 64280; OMIM: 607681

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001137020Mendelicscriteria provided, single submitter
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001137020.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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