NM_001134363.3:c.1538G>A
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_001134363.3(RBM20):c.1538G>A(p.Arg513Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000011 in 1,550,888 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001134363.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBM20 | NM_001134363.3 | c.1538G>A | p.Arg513Gln | missense_variant | Exon 6 of 14 | ENST00000369519.4 | NP_001127835.2 | |
RBM20 | XM_017016103.3 | c.1373G>A | p.Arg458Gln | missense_variant | Exon 6 of 14 | XP_016871592.1 | ||
RBM20 | XM_017016104.3 | c.1154G>A | p.Arg385Gln | missense_variant | Exon 6 of 14 | XP_016871593.1 | ||
RBM20 | XM_047425116.1 | c.1154G>A | p.Arg385Gln | missense_variant | Exon 6 of 14 | XP_047281072.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152124Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000128 AC: 2AN: 156134Hom.: 0 AF XY: 0.0000121 AC XY: 1AN XY: 82708
GnomAD4 exome AF: 0.0000107 AC: 15AN: 1398764Hom.: 0 Cov.: 31 AF XY: 0.0000116 AC XY: 8AN XY: 689870
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152124Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74298
ClinVar
Submissions by phenotype
not specified Uncertain:1
The p.Arg513Gln variant in RBM20 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein though one mammalian species (cape golden mole ) carries the variant amino acid at this position, raising the possibility that it may be tolerated. In summary, the clinical significance of the p.Arg513Gln va riant is uncertain. -
not provided Uncertain:1
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Dilated cardiomyopathy 1DD Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at