rs397516617
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_ModerateBP6_Very_StrongBP7BS2
The NM_001134363.3(RBM20):āc.3603C>Gā(p.Gly1201=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000103 in 1,548,692 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. G1201G) has been classified as Likely benign.
Frequency
Consequence
NM_001134363.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBM20 | NM_001134363.3 | c.3603C>G | p.Gly1201= | synonymous_variant | 14/14 | ENST00000369519.4 | |
RBM20 | XM_017016103.3 | c.3438C>G | p.Gly1146= | synonymous_variant | 14/14 | ||
RBM20 | XM_017016104.3 | c.3219C>G | p.Gly1073= | synonymous_variant | 14/14 | ||
RBM20 | XM_047425116.1 | c.3219C>G | p.Gly1073= | synonymous_variant | 14/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBM20 | ENST00000369519.4 | c.3603C>G | p.Gly1201= | synonymous_variant | 14/14 | 1 | NM_001134363.3 | P1 | |
RBM20 | ENST00000465774.2 | n.544C>G | non_coding_transcript_exon_variant | 2/2 | 4 | ||||
RBM20 | ENST00000480343.2 | n.236C>G | non_coding_transcript_exon_variant | 3/3 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 3AN: 150752Hom.: 0 AF XY: 0.0000374 AC XY: 3AN XY: 80186
GnomAD4 exome AF: 0.00000931 AC: 13AN: 1396496Hom.: 0 Cov.: 29 AF XY: 0.0000116 AC XY: 8AN XY: 688916
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74354
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Nov 30, 2012 | Gly1201Gly in exon 14 of RBM20: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Gly1201Gly in exon 14 of RBM20 (allele fre quency = n/a) - |
Dilated cardiomyopathy 1DD Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 28, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at