rs1353948871
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_001134363.3(RBM20):āc.2968A>Gā(p.Ser990Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000286 in 1,398,454 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001134363.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBM20 | NM_001134363.3 | c.2968A>G | p.Ser990Gly | missense_variant | 11/14 | ENST00000369519.4 | NP_001127835.2 | |
RBM20 | XM_017016103.3 | c.2803A>G | p.Ser935Gly | missense_variant | 11/14 | XP_016871592.1 | ||
RBM20 | XM_017016104.3 | c.2584A>G | p.Ser862Gly | missense_variant | 11/14 | XP_016871593.1 | ||
RBM20 | XM_047425116.1 | c.2584A>G | p.Ser862Gly | missense_variant | 11/14 | XP_047281072.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBM20 | ENST00000369519.4 | c.2968A>G | p.Ser990Gly | missense_variant | 11/14 | 1 | NM_001134363.3 | ENSP00000358532.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000191 AC: 3AN: 157234Hom.: 0 AF XY: 0.0000241 AC XY: 2AN XY: 83064
GnomAD4 exome AF: 0.00000286 AC: 4AN: 1398454Hom.: 0 Cov.: 33 AF XY: 0.00000290 AC XY: 2AN XY: 689426
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | AiLife Diagnostics, AiLife Diagnostics | May 07, 2020 | - - |
Cardiovascular phenotype Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 17, 2024 | The p.S990G variant (also known as c.2968A>G), located in coding exon 11 of the RBM20 gene, results from an A to G substitution at nucleotide position 2968. The serine at codon 990 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and glycine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. - |
Dilated cardiomyopathy 1DD Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Mar 24, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at