rs9383921
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001394057.1(RAET1E):āc.421G>Cā(p.Ala141Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A141T) has been classified as Likely benign.
Frequency
Consequence
NM_001394057.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RAET1E | NM_001394057.1 | c.421G>C | p.Ala141Pro | missense_variant | 5/6 | ENST00000357183.9 | |
RAET1E-LRP11 | NR_182438.1 | n.839G>C | non_coding_transcript_exon_variant | 4/15 | |||
RAET1E-AS1 | NR_045126.1 | n.885+25167C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAET1E | ENST00000357183.9 | c.421G>C | p.Ala141Pro | missense_variant | 5/6 | 1 | NM_001394057.1 | P2 | |
RAET1E-AS1 | ENST00000605899.1 | n.114+3876C>G | intron_variant, non_coding_transcript_variant | 5 | |||||
RAET1E-AS1 | ENST00000606915.1 | n.889+25167C>G | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.84e-7 AC: 1AN: 1461864Hom.: 0 Cov.: 46 AF XY: 0.00 AC XY: 0AN XY: 727234
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at