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NM_198904.4(GABRG2):c.875T>C (p.Val292Ala) AND Developmental and epileptic encephalopathy, 74

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 30, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003388247.1

Allele description [Variation Report for NM_198904.4(GABRG2):c.875T>C (p.Val292Ala)]

NM_198904.4(GABRG2):c.875T>C (p.Val292Ala)

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.875T>C (p.Val292Ala)
HGVS:
  • NC_000005.10:g.162142269T>C
  • NG_009290.1:g.79628T>C
  • NM_000816.3:c.875T>C
  • NM_001375339.1:c.866T>C
  • NM_001375340.1:c.875T>C
  • NM_001375341.1:c.872T>C
  • NM_001375342.1:c.872T>C
  • NM_001375343.1:c.995T>C
  • NM_001375344.1:c.914T>C
  • NM_001375345.1:c.809T>C
  • NM_001375346.1:c.809T>C
  • NM_001375347.1:c.788T>C
  • NM_001375348.1:c.455T>C
  • NM_001375349.1:c.590T>C
  • NM_001375350.1:c.455T>C
  • NM_198903.2:c.995T>C
  • NM_198904.4:c.875T>CMANE SELECT
  • NP_000807.2:p.Val292Ala
  • NP_001362268.1:p.Val289Ala
  • NP_001362269.1:p.Val292Ala
  • NP_001362270.1:p.Val291Ala
  • NP_001362271.1:p.Val291Ala
  • NP_001362272.1:p.Val332Ala
  • NP_001362273.1:p.Val305Ala
  • NP_001362274.1:p.Val270Ala
  • NP_001362275.1:p.Val270Ala
  • NP_001362276.1:p.Val263Ala
  • NP_001362277.1:p.Val152Ala
  • NP_001362278.1:p.Val197Ala
  • NP_001362279.1:p.Val152Ala
  • NP_944493.2:p.Val332Ala
  • NP_944494.1:p.Val292Ala
  • NC_000005.9:g.161569275T>C
Protein change:
V152A
Molecular consequence:
  • NM_000816.3:c.875T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375339.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375340.1:c.875T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375341.1:c.872T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375342.1:c.872T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375343.1:c.995T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375344.1:c.914T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375345.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375346.1:c.809T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375347.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375348.1:c.455T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375349.1:c.590T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375350.1:c.455T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.995T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.4:c.875T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 74
Synonyms:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74
Identifiers:
MONDO: MONDO:0032725; MedGen: C5193074; OMIM: 618396

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004099367Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
no assertion criteria provided
Likely pathogenic
(Oct 30, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004099367.1

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

Last Updated: Nov 4, 2023