rs878854248
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_001134363.3(RBM20):c.138_149delGCCGCCCCAGCC(p.Pro47_Pro50del) variant causes a disruptive inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000146 in 1,373,678 control chromosomes in the GnomAD database, including 1 homozygotes. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P46P) has been classified as Likely benign.
Frequency
Consequence
NM_001134363.3 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
Publications
- dilated cardiomyopathyInheritance: AD Classification: DEFINITIVE Submitted by: ClinGen
- dilated cardiomyopathy 1DDInheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), Ambry Genetics, G2P
- familial isolated dilated cardiomyopathyInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- hypertrophic cardiomyopathyInheritance: AD Classification: LIMITED Submitted by: ClinGen
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_001134363.3. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| RBM20 | NM_001134363.3 | MANE Select | c.138_149delGCCGCCCCAGCC | p.Pro47_Pro50del | disruptive_inframe_deletion | Exon 1 of 14 | NP_001127835.2 |
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| RBM20 | ENST00000369519.4 | TSL:1 MANE Select | c.138_149delGCCGCCCCAGCC | p.Pro47_Pro50del | disruptive_inframe_deletion | Exon 1 of 14 | ENSP00000358532.3 | ||
| RBM20 | ENST00000718239.1 | c.138_149delGCCGCCCCAGCC | p.Pro47_Pro50del | disruptive_inframe_deletion | Exon 1 of 14 | ENSP00000520684.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000146 AC: 2AN: 1373678Hom.: 1 AF XY: 0.00000295 AC XY: 2AN XY: 677506 show subpopulations
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at