NM_198903.2(GABRG2):c.1233_1235del (p.Lys414del) AND Inborn genetic diseases

Clinical significance:Uncertain significance (Last evaluated: Aug 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000624390.1

Allele description [Variation Report for NM_198903.2(GABRG2):c.1233_1235del (p.Lys414del)]

NM_198903.2(GABRG2):c.1233_1235del (p.Lys414del)

Gene:
GABRG2:gamma-aminobutyric acid type A receptor subunit gamma2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q34
Genomic location:
Preferred name:
NM_198903.2(GABRG2):c.1233_1235del (p.Lys414del)
HGVS:
  • NC_000005.10:g.162149298_162149300del
  • NG_009290.1:g.86657_86659del
  • NM_000816.3:c.1113_1115del
  • NM_198903.2:c.1233_1235del
  • NM_198904.2:c.1113_1115del
  • NP_000807.2:p.Lys374del
  • NP_944493.2:p.Lys414del
  • NP_944494.1:p.Lys374del
  • NC_000005.9:g.161576302_161576304del
  • NC_000005.9:g.161576304_161576306del
  • NM_000816.3:c.1113_1115delAAA
  • p.K374del
Protein change:
K374del
Links:
dbSNP: rs727503941
NCBI 1000 Genomes Browser:
rs727503941
Molecular consequence:
  • NM_000816.3:c.1113_1115del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198903.2:c.1233_1235del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198904.2:c.1113_1115del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742820Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Aug 23, 2017)
germlineclinical testing

PubMed (16)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1yesclinical testing

Citations

PubMed

Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

Shi X, Huang MC, Ishii A, Yoshida S, Okada M, Morita K, Nagafuji H, Yasumoto S, Kaneko S, Kojima T, Hirose S.

J Hum Genet. 2010 Jun;55(6):375-8. doi: 10.1038/jhg.2010.47. Epub 2010 May 20.

PubMed [citation]
PMID:
20485450

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E.

Nat Genet. 2001 May;28(1):46-8.

PubMed [citation]
PMID:
11326274
See all PubMed Citations (16)

Details of each submission

From Ambry Genetics, SCV000742820.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesclinical testing PubMed (16)

Description

Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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