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NM_001127644.2(GABRA1):c.339A>T (p.Leu113Phe) AND Seizure

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 18, 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:
RCV000717220.1

Allele description

NM_001127644.2(GABRA1):c.339A>T (p.Leu113Phe)

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.339A>T (p.Leu113Phe)
HGVS:
  • NC_000005.10:g.161873200A>T
  • NG_011548.1:g.31010A>T
  • NM_000806.5:c.339A>T
  • NM_001127643.2:c.339A>T
  • NM_001127644.2:c.339A>TMANE SELECT
  • NM_001127645.2:c.339A>T
  • NM_001127648.2:c.339A>T
  • NP_000797.2:p.Leu113Phe
  • NP_001121115.1:p.Leu113Phe
  • NP_001121116.1:p.Leu113Phe
  • NP_001121117.1:p.Leu113Phe
  • NP_001121120.1:p.Leu113Phe
  • NC_000005.9:g.161300206A>T
Protein change:
L113F
Links:
dbSNP: rs1554085513
NCBI 1000 Genomes Browser:
rs1554085513
Molecular consequence:
  • NM_000806.5:c.339A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127643.2:c.339A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127644.2:c.339A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127645.2:c.339A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127648.2:c.339A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000848069Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Oct 18, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000848069.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.L113F variant (also known as c.339A>T), located in coding exon 4 of the GABRA1 gene, results from an A to T substitution at nucleotide position 339. The leucine at codon 113 is replaced by phenylalanine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022