1-11908243-T-TA
Variant names:
Variant summary
Our verdict is . The variant received 2 ACMG points: 2P and 0B. PM2
Uncertain significance
The NR_002754.3(RNU5E-1):n.92_93insA variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Genomes: not found (cov: 33)
Consequence
RNU5E-1
NR_002754.3 non_coding_transcript_exon
NR_002754.3 non_coding_transcript_exon
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 2.22
Publications
0 publications found
Genes affected
RNU5E-1 (HGNC:10215): (RNA, U5E small nuclear 1)
Genome browser will be placed here
new If you want to explore the variant's impact on the transcript NR_002754.3, check out the Mutation Effect Viewer. This is especially useful for frameshift variants or if you want to visualize the effect of exon loss / intron retention.
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Variant Effect in Transcripts
ACMG analysis was done for transcript: NR_002754.3. You can select a different transcript below to see updated ACMG assignments.
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| RNU5E-1 | TSL:6 | n.92_93insA | non_coding_transcript_exon | Exon 1 of 1 | |||||
| ENSG00000285646 | n.97_98insA | non_coding_transcript_exon | Exon 1 of 3 | ||||||
| ENSG00000285646 | n.97_98insA | non_coding_transcript_exon | Exon 1 of 2 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
33
GnomAD4 exome Cov.: 0
GnomAD4 exome
Cov.:
0
GnomAD4 genome
GnomAD4 genome
Cov.:
33
ClinVar
ClinVar submissions
View on ClinVar Significance:Uncertain significance
Revision:criteria provided, multiple submitters, no conflicts
Pathogenic
VUS
Benign
Condition
-
1
-
not provided (1)
-
1
-
RNU5E-1-associated neurodevelopmental disorder (1)
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.
Publications
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