NM_198903.2(GABRG2):c.1232A>C (p.Lys411Thr) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000764588.1

Allele description [Variation Report for NM_198903.2(GABRG2):c.1232A>C (p.Lys411Thr)]

NM_198903.2(GABRG2):c.1232A>C (p.Lys411Thr)

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.1232A>C (p.Lys411Thr)
Other names:
p.K371T:AAA>ACA
HGVS:
  • NC_000005.10:g.162149297A>C
  • NG_009290.1:g.86656A>C
  • NM_000816.3:c.1112A>C
  • NM_198903.2:c.1232A>C
  • NM_198904.2:c.1112A>C
  • NP_000807.2:p.Lys371Thr
  • NP_944493.2:p.Lys411Thr
  • NP_944494.1:p.Lys371Thr
  • NC_000005.9:g.161576303A>C
Protein change:
K371T
Links:
dbSNP: rs796052512
NCBI 1000 Genomes Browser:
rs796052512
Molecular consequence:
  • NM_000816.3:c.1112A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.1232A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.2:c.1112A>C - 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
Name:
Familial febrile seizures 8 (FEB8)
Synonyms:
CONVULSIONS, FAMILIAL FEBRILE, 8
Identifiers:
MedGen: C1969810; Orphanet: 36387

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000895683Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot 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 Fulgent Genetics,Fulgent Genetics, SCV000895683.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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