rs878854252
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001134363.3(RBM20):āc.3245T>Cā(p.Leu1082Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000967 in 1,551,540 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/18 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. L1082R) has been classified as Likely benign.
Frequency
Consequence
NM_001134363.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RBM20 | NM_001134363.3 | c.3245T>C | p.Leu1082Pro | missense_variant | 11/14 | ENST00000369519.4 | |
RBM20 | XM_017016103.3 | c.3080T>C | p.Leu1027Pro | missense_variant | 11/14 | ||
RBM20 | XM_017016104.3 | c.2861T>C | p.Leu954Pro | missense_variant | 11/14 | ||
RBM20 | XM_047425116.1 | c.2861T>C | p.Leu954Pro | missense_variant | 11/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RBM20 | ENST00000369519.4 | c.3245T>C | p.Leu1082Pro | missense_variant | 11/14 | 1 | NM_001134363.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000192 AC: 3AN: 156470Hom.: 0 AF XY: 0.0000121 AC XY: 1AN XY: 82936
GnomAD4 exome AF: 0.0000100 AC: 14AN: 1399410Hom.: 0 Cov.: 33 AF XY: 0.0000116 AC XY: 8AN XY: 690210
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74326
ClinVar
Submissions by phenotype
Primary familial dilated cardiomyopathy Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at