U.S. flag

An official website of the United States government

NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 4, 2016
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:
RCV000187504.3

Allele description [Variation Report for NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)]

NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)

Gene:
GABRA1:gamma-aminobutyric acid type A receptor subunit alpha1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q34
Genomic location:
Preferred name:
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)
Other names:
p.T295I:ACA>ATA
HGVS:
  • NC_000005.10:g.161895693C>T
  • NG_011548.1:g.53503C>T
  • NM_000806.5:c.884C>T
  • NM_001127643.2:c.884C>T
  • NM_001127644.2:c.884C>TMANE SELECT
  • NM_001127645.2:c.884C>T
  • NM_001127648.2:c.884C>T
  • NP_000797.2:p.Thr295Ile
  • NP_001121115.1:p.Thr295Ile
  • NP_001121116.1:p.Thr295Ile
  • NP_001121117.1:p.Thr295Ile
  • NP_001121120.1:p.Thr295Ile
  • NC_000005.9:g.161322699C>T
Protein change:
T295I
Links:
dbSNP: rs796052496
NCBI 1000 Genomes Browser:
rs796052496
Molecular consequence:
  • NM_000806.5:c.884C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127643.2:c.884C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127644.2:c.884C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127645.2:c.884C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127648.2:c.884C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241098GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Nov 4, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241098.11

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

Description

The Thr295Ile missense change has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Thr295Ile in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. This variant is a non-conservative amino acid substitution of a polar Threonine residue with a non-polar Isoleucine residue. Thr295Ile alters a highly conserved position in the second transmembrane domain of the GABRA1 protein and another missense variant at a nearby codon (Thr294Ile) has been reported as a de novo variant in an individual with epilepsy. In addition, in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, the Thr295Ile variant is a strong candidate for a pathogenic variant, although the possibility that it is a benign variant cannot be excluded. The variant is found in EPILEPSY panel(s).

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

Last Updated: Feb 28, 2024