NM_001134363.3:c.850G>C
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_001134363.3(RBM20):c.850G>C(p.Gly284Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000129 in 1,551,332 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G284E) has been classified as Likely benign.
Frequency
Consequence
NM_001134363.3 missense
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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBM20 | NM_001134363.3 | c.850G>C | p.Gly284Arg | missense_variant | Exon 2 of 14 | ENST00000369519.4 | NP_001127835.2 | |
RBM20 | XM_017016103.3 | c.685G>C | p.Gly229Arg | missense_variant | Exon 2 of 14 | XP_016871592.1 | ||
RBM20 | XM_017016104.3 | c.466G>C | p.Gly156Arg | missense_variant | Exon 2 of 14 | XP_016871593.1 | ||
RBM20 | XM_047425116.1 | c.466G>C | p.Gly156Arg | missense_variant | Exon 2 of 14 | XP_047281072.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152178Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00000651 AC: 1AN: 153600 AF XY: 0.0000123 show subpopulations
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1399154Hom.: 0 Cov.: 32 AF XY: 0.00000145 AC XY: 1AN XY: 690090 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74344 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at