rs1170141703
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_001134363.3(RBM20):c.225G>A(p.Ser75=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000649 in 1,386,402 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 (★). Synonymous variant affecting the same amino acid position (i.e. S75S) has been classified as Likely benign.
Frequency
Consequence
NM_001134363.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBM20 | NM_001134363.3 | c.225G>A | p.Ser75= | synonymous_variant | 2/14 | ENST00000369519.4 | |
RBM20 | XM_017016103.3 | c.60G>A | p.Ser20= | synonymous_variant | 2/14 | ||
RBM20 | XM_017016104.3 | c.-160G>A | 5_prime_UTR_variant | 2/14 | |||
RBM20 | XM_047425116.1 | c.-160G>A | 5_prime_UTR_variant | 2/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBM20 | ENST00000369519.4 | c.225G>A | p.Ser75= | synonymous_variant | 2/14 | 1 | NM_001134363.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000134 AC: 2AN: 149586Hom.: 0 AF XY: 0.0000127 AC XY: 1AN XY: 78742
GnomAD4 exome AF: 0.00000649 AC: 9AN: 1386402Hom.: 0 Cov.: 32 AF XY: 0.00000440 AC XY: 3AN XY: 681564
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Dilated cardiomyopathy 1DD Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 17, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at