rs878854253
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001134363.3(RBM20):c.352A>G(p.Thr118Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000429 in 1,399,444 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T118I) 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBM20 | NM_001134363.3 | c.352A>G | p.Thr118Ala | missense_variant | 2/14 | ENST00000369519.4 | |
RBM20 | XM_017016103.3 | c.187A>G | p.Thr63Ala | missense_variant | 2/14 | ||
RBM20 | XM_017016104.3 | c.-33A>G | 5_prime_UTR_variant | 2/14 | |||
RBM20 | XM_047425116.1 | c.-33A>G | 5_prime_UTR_variant | 2/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBM20 | ENST00000369519.4 | c.352A>G | p.Thr118Ala | missense_variant | 2/14 | 1 | NM_001134363.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000128 AC: 2AN: 156618Hom.: 0 AF XY: 0.0000120 AC XY: 1AN XY: 82988
GnomAD4 exome AF: 0.00000429 AC: 6AN: 1399444Hom.: 0 Cov.: 32 AF XY: 0.00000290 AC XY: 2AN XY: 690226
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Dilated cardiomyopathy 1DD Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Sep 08, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at