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NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr) AND Febrile seizures, familial, 8

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 2022
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:
RCV002254721.2

Allele description [Variation Report for NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr)]

NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr)

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.1108G>T (p.Asp370Tyr)
HGVS:
  • NC_000005.10:g.162149293G>T
  • NG_009290.1:g.86652G>T
  • NM_000816.3:c.1108G>T
  • NM_001375339.1:c.1099G>T
  • NM_001375340.1:c.923-2437G>T
  • NM_001375341.1:c.1105G>T
  • NM_001375342.1:c.1105G>T
  • NM_001375343.1:c.1228G>T
  • NM_001375344.1:c.1147G>T
  • NM_001375345.1:c.1042G>T
  • NM_001375346.1:c.1042G>T
  • NM_001375347.1:c.1021G>T
  • NM_001375348.1:c.688G>T
  • NM_001375349.1:c.823G>T
  • NM_001375350.1:c.688G>T
  • NM_198903.2:c.1228G>T
  • NM_198904.4:c.1108G>TMANE SELECT
  • NP_000807.2:p.Asp370Tyr
  • NP_001362268.1:p.Asp367Tyr
  • NP_001362270.1:p.Asp369Tyr
  • NP_001362271.1:p.Asp369Tyr
  • NP_001362272.1:p.Asp410Tyr
  • NP_001362273.1:p.Asp383Tyr
  • NP_001362274.1:p.Asp348Tyr
  • NP_001362275.1:p.Asp348Tyr
  • NP_001362276.1:p.Asp341Tyr
  • NP_001362277.1:p.Asp230Tyr
  • NP_001362278.1:p.Asp275Tyr
  • NP_001362279.1:p.Asp230Tyr
  • NP_944493.2:p.Asp410Tyr
  • NP_944494.1:p.Asp370Tyr
  • NC_000005.9:g.161576299G>T
  • NM_000816.3:c.1108G>T
Protein change:
D230Y
Links:
dbSNP: rs1415854808
NCBI 1000 Genomes Browser:
rs1415854808
Molecular consequence:
  • NM_001375340.1:c.923-2437G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000816.3:c.1108G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375339.1:c.1099G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375341.1:c.1105G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375342.1:c.1105G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375343.1:c.1228G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375344.1:c.1147G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375345.1:c.1042G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375346.1:c.1042G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375347.1:c.1021G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375348.1:c.688G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375349.1:c.823G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375350.1:c.688G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.1228G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.4:c.1108G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Febrile seizures, familial, 8 (FEB8)
Synonyms:
CONVULSIONS, FAMILIAL FEBRILE, 8
Identifiers:
MONDO: MONDO:0011891; MedGen: C1969810; Orphanet: 36387; OMIM: 607681

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002526106Institute of Human Genetics, University Hospital Muenster
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 28, 2022) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University Hospital Muenster, SCV002526106.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG categories: PM1,PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedbloodnot provided1not providednot providednot provided

Last Updated: Sep 29, 2024