rs587783190
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PP3_Strong
The NM_139058.3(ARX):c.1448G>A(p.Arg483Lys) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. 2/2 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R483T) has been classified as Uncertain significance.
Frequency
Consequence
NM_139058.3 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARX | NM_139058.3 | c.1448G>A | p.Arg483Lys | missense_variant, splice_region_variant | 4/5 | ENST00000379044.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARX | ENST00000379044.5 | c.1448G>A | p.Arg483Lys | missense_variant, splice_region_variant | 4/5 | 1 | NM_139058.3 | P1 | |
ARX | ENST00000637993.1 | c.62G>A | p.Arg21Lys | missense_variant, splice_region_variant | 1/2 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 22
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1080402Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 352300
GnomAD4 genome ? Cov.: 22
ClinVar
Submissions by phenotype
epileptic encephalopathy, early infanitle, 1 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Apr 18, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at