NM_001127644.2(GABRA1):c.949A>C (p.Ile317Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 7, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000187506.2

Allele description [Variation Report for NM_001127644.2(GABRA1):c.949A>C (p.Ile317Leu)]

NM_001127644.2(GABRA1):c.949A>C (p.Ile317Leu)

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.949A>C (p.Ile317Leu)
Other names:
p.I317L:ATT>CTT
HGVS:
  • NC_000005.10:g.161895758A>C
  • NG_011548.1:g.53568A>C
  • NM_000806.5:c.949A>C
  • NM_001127643.2:c.949A>C
  • NM_001127644.2:c.949A>CMANE SELECT
  • NM_001127645.2:c.949A>C
  • NM_001127648.2:c.949A>C
  • NP_000797.2:p.Ile317Leu
  • NP_001121115.1:p.Ile317Leu
  • NP_001121116.1:p.Ile317Leu
  • NP_001121117.1:p.Ile317Leu
  • NP_001121120.1:p.Ile317Leu
  • NC_000005.9:g.161322764A>C
Protein change:
I317L
Links:
dbSNP: rs796052498
NCBI 1000 Genomes Browser:
rs796052498
Molecular consequence:
  • NM_000806.5:c.949A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127643.2:c.949A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127644.2:c.949A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127645.2:c.949A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127648.2:c.949A>C - 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
SCV000241100GeneDxcriteria provided, single submitter
Uncertain significance
(May 7, 2019)
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, SCV000241100.10

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 26, 2021

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