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NM_001371727.1(GABRB2):c.737T>C (p.Ile246Thr) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 24, 2017
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:
RCV000478537.1

Allele description [Variation Report for NM_001371727.1(GABRB2):c.737T>C (p.Ile246Thr)]

NM_001371727.1(GABRB2):c.737T>C (p.Ile246Thr)

Gene:
GABRB2:gamma-aminobutyric acid type A receptor subunit beta2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q34
Genomic location:
Preferred name:
NM_001371727.1(GABRB2):c.737T>C (p.Ile246Thr)
HGVS:
  • NC_000005.10:g.161334847A>G
  • NG_047050.1:g.218278T>C
  • NM_000813.3:c.737T>C
  • NM_001371727.1:c.737T>CMANE SELECT
  • NM_021911.3:c.737T>C
  • NP_000804.1:p.Ile246Thr
  • NP_001358656.1:p.Ile246Thr
  • NP_068711.1:p.Ile246Thr
  • NP_068711.1:p.Ile246Thr
  • NC_000005.9:g.160761854A>G
  • NM_021911.2:c.737T>C
Protein change:
I246T
Links:
dbSNP: rs1064793551
NCBI 1000 Genomes Browser:
rs1064793551
Molecular consequence:
  • NM_000813.3:c.737T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371727.1:c.737T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021911.3:c.737T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000566400GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Feb 24, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000566400.3

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

Description

The I246T variant in the GABRB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, I246T has been observed at GeneDx as a de novo variant with confirmed parentage in unrelated patients with infantile-onset epilepsy and developmental delay. The I246T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I246T variant is a non-conservative amino acid substitution that occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret I246T as a pathogenic variant.

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

Last Updated: Apr 23, 2022