X-47169435-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_005676.5(RBM10):c.138C>T(p.Arg46Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000273 in 1,097,779 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. R46R) has been classified as Likely benign.
Frequency
Consequence
NM_005676.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBM10 | NM_005676.5 | c.138C>T | p.Arg46Arg | synonymous_variant | Exon 3 of 24 | ENST00000377604.8 | NP_005667.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBM10 | ENST00000377604.8 | c.138C>T | p.Arg46Arg | synonymous_variant | Exon 3 of 24 | 1 | NM_005676.5 | ENSP00000366829.3 | ||
RBM10 | ENST00000329236.8 | c.333C>T | p.Arg111Arg | synonymous_variant | Exon 3 of 24 | 1 | ENSP00000328848.8 | |||
RBM10 | ENST00000628161.2 | c.138C>T | p.Arg46Arg | synonymous_variant | Exon 3 of 23 | 1 | ENSP00000486115.1 | |||
RBM10 | ENST00000345781.10 | c.138C>T | p.Arg46Arg | synonymous_variant | Exon 3 of 23 | 2 | ENSP00000329659.6 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 112493Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34661 FAILED QC
GnomAD4 exome AF: 0.00000273 AC: 3AN: 1097779Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 363151
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 112493Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34661
ClinVar
Submissions by phenotype
not provided Uncertain:1
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change affects codon 46 of the RBM10 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RBM10 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RBM10-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.