rs371754487
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001134363.3(RBM20):c.3500G>A(p.Gly1167Glu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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. G1167V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001134363.3 missense
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 |
---|---|---|---|---|---|---|---|
RBM20 | NM_001134363.3 | c.3500G>A | p.Gly1167Glu | missense_variant | 13/14 | ENST00000369519.4 | |
RBM20 | XM_017016103.3 | c.3335G>A | p.Gly1112Glu | missense_variant | 13/14 | ||
RBM20 | XM_017016104.3 | c.3116G>A | p.Gly1039Glu | missense_variant | 13/14 | ||
RBM20 | XM_047425116.1 | c.3116G>A | p.Gly1039Glu | missense_variant | 13/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBM20 | ENST00000369519.4 | c.3500G>A | p.Gly1167Glu | missense_variant | 13/14 | 1 | NM_001134363.3 | P1 | |
RBM20 | ENST00000471172.1 | n.76G>A | non_coding_transcript_exon_variant | 2/2 | 5 | ||||
RBM20 | ENST00000480343.2 | n.133G>A | non_coding_transcript_exon_variant | 2/3 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at