rs1554844950
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_001134363.3(RBM20):c.3594_3623dup(p.Glu1199_Ala1208dup) variant causes a inframe insertion change. The variant allele was found at a frequency of 0.00000657 in 152,206 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: 𝑓 0.0000066 ( 0 hom., cov: 32)
Consequence
RBM20
NM_001134363.3 inframe_insertion
NM_001134363.3 inframe_insertion
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 4.03
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 4 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
PM4
?
Nonframeshift variant in NON repetitive region in NM_001134363.3.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBM20 | NM_001134363.3 | c.3594_3623dup | p.Glu1199_Ala1208dup | inframe_insertion | 14/14 | ENST00000369519.4 | |
RBM20 | XM_017016103.3 | c.3429_3458dup | p.Glu1144_Ala1153dup | inframe_insertion | 14/14 | ||
RBM20 | XM_017016104.3 | c.3210_3239dup | p.Glu1071_Ala1080dup | inframe_insertion | 14/14 | ||
RBM20 | XM_047425116.1 | c.3210_3239dup | p.Glu1071_Ala1080dup | inframe_insertion | 14/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBM20 | ENST00000369519.4 | c.3594_3623dup | p.Glu1199_Ala1208dup | inframe_insertion | 14/14 | 1 | NM_001134363.3 | P1 | |
RBM20 | ENST00000465774.2 | n.535_564dup | non_coding_transcript_exon_variant | 2/2 | 4 | ||||
RBM20 | ENST00000480343.2 | n.227_256dup | non_coding_transcript_exon_variant | 3/3 | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152206Hom.: 0 Cov.: 32
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GnomAD4 exome Cov.: 30
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GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74356
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Dilated cardiomyopathy 1DD Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Dec 18, 2021 | This variant, c.3594_3623dup, results in the insertion of 10 amino acid(s) of the RBM20 protein (p.Glu1199_Ala1208dup), but otherwise preserves the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 470614). This variant has not been reported in the literature in individuals affected with RBM20-related conditions. This variant is not present in population databases (gnomAD no frequency). - |
Computational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at