NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jul 2, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000187500.1

Allele description [Variation Report for NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)]

NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)

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.799C>A (p.Leu267Ile)
Other names:
p.L267I:CTC>ATC
HGVS:
  • NC_000005.10:g.161890993C>A
  • NG_011548.1:g.48803C>A
  • NM_000806.5:c.799C>A
  • NM_001127643.2:c.799C>A
  • NM_001127644.2:c.799C>AMANE SELECT
  • NM_001127645.2:c.799C>A
  • NM_001127648.2:c.799C>A
  • NP_000797.2:p.Leu267Ile
  • NP_001121115.1:p.Leu267Ile
  • NP_001121116.1:p.Leu267Ile
  • NP_001121117.1:p.Leu267Ile
  • NP_001121120.1:p.Leu267Ile
  • NC_000005.9:g.161317999C>A
Protein change:
L267I
Links:
dbSNP: rs796052492
NCBI 1000 Genomes Browser:
rs796052492
Molecular consequence:
  • NM_000806.5:c.799C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127643.2:c.799C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127644.2:c.799C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127645.2:c.799C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127648.2:c.799C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000241094GeneDxcriteria provided, single submitter
Likely pathogenic
(Jul 2, 2012)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241094.11

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

Description

p.Leu267Ile (CTC>ATC): c.799 C>A in exon 9 of the GABRA1 gene (NM_000806.5). The Leu267Ile missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Leu267Ile in approximately 5,000 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is conservative, as Leucine and Isoleucine are both uncharged, non-polar amino acids. However, it alters a position in the first transmembrane domain that is highly conserved across species and in related proteins. Several in silico algorithms predict Leu267Ile is likely damaging to protein structure/function, while another predicts it is likely not pathogenic. Therefore, based on the currently available information, it is unclear whether Leu267Ile is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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

Last Updated: Mar 7, 2021

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