NM_198903.2(GABRG2):c.1232A>C (p.Lys411Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000187535.4

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]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000241129GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 25, 2018)
germlineclinical testing

Citation Link,

SCV001961919CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Aug 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000241129.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Lys371Thr (AAA>ACA): c.1112 A>C in exon 8 of the GABRG2 gene (NM_000816.3) The K371T variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K371T variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution alters a conserved position in the cytoplasmic loop between the third and fourth transmembrane domains of the GABRG2 protein (MacDonald et al., 2010), and a missense mutation in a nearby residue (R363Q) has been reported in association with epilepsy. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001961919.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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