rs727505262
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001134363.3(RBM20):āc.1190A>Cā(p.His397Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000214 in 1,399,444 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H397Y) has been classified as Uncertain significance.
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 | UniProt |
---|---|---|---|---|---|---|---|
RBM20 | NM_001134363.3 | c.1190A>C | p.His397Pro | missense_variant | 2/14 | ENST00000369519.4 | |
RBM20 | XM_017016103.3 | c.1025A>C | p.His342Pro | missense_variant | 2/14 | ||
RBM20 | XM_017016104.3 | c.806A>C | p.His269Pro | missense_variant | 2/14 | ||
RBM20 | XM_047425116.1 | c.806A>C | p.His269Pro | missense_variant | 2/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBM20 | ENST00000369519.4 | c.1190A>C | p.His397Pro | missense_variant | 2/14 | 1 | NM_001134363.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000214 AC: 3AN: 1399444Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 690228
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Sep 05, 2014 | The His397Pro variant in RBM20 has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that the His397Pro variant may not impact th e protein, though this information is not predictive enough to rule out pathogen icity. In summary, the clinical significance of the His397Pro variant is uncerta in. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at