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NM_000808.4(GABRA3):c.1093C>T (p.Arg365Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 2020
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:
RCV001266607.3

Allele description [Variation Report for NM_000808.4(GABRA3):c.1093C>T (p.Arg365Trp)]

NM_000808.4(GABRA3):c.1093C>T (p.Arg365Trp)

Gene:
GABRA3:gamma-aminobutyric acid type A receptor subunit alpha3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000808.4(GABRA3):c.1093C>T (p.Arg365Trp)
HGVS:
  • NC_000023.11:g.152189780G>A
  • NG_007102.2:g.266579C>T
  • NM_000808.4:c.1093C>TMANE SELECT
  • NP_000799.1:p.Arg365Trp
  • NC_000023.10:g.151358252G>A
  • NM_000808.3:c.1093C>T
Protein change:
R365W
Links:
dbSNP: rs1937299789
NCBI 1000 Genomes Browser:
rs1937299789
Molecular consequence:
  • NM_000808.4:c.1093C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001444783Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(May 28, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001444783.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The alteration results in an amino acid change: The c.1093C>T (p.R365W) alteration is located in exon 9 (coding exon 8) of the GABRA3 gene. This alteration results from a C to T substitution at nucleotide position 1093, causing the arginine (R) at amino acid position 365 to be replaced by a tryptophan (W). The alteration is not observed in population databases: Based on data from the Genome Aggregation Database (gnomAD), the GABRA3 c.1093C>T alteration was not observed, with coverage at this position. The altered amino acid is conserved throughout evolution: The p.R365 amino acid is conserved in available vertebrate species. The alteration is predicted deleterious by in silico modeling: The p.R365W alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Feb 7, 2023