rs557873670
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_001134363.3(RBM20):c.1701A>G(p.Ala567Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000336 in 1,399,358 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 Likely benign (★★).
Frequency
Consequence
NM_001134363.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBM20 | NM_001134363.3 | c.1701A>G | p.Ala567Ala | synonymous_variant | Exon 7 of 14 | ENST00000369519.4 | NP_001127835.2 | |
RBM20 | XM_017016103.3 | c.1536A>G | p.Ala512Ala | synonymous_variant | Exon 7 of 14 | XP_016871592.1 | ||
RBM20 | XM_017016104.3 | c.1317A>G | p.Ala439Ala | synonymous_variant | Exon 7 of 14 | XP_016871593.1 | ||
RBM20 | XM_047425116.1 | c.1317A>G | p.Ala439Ala | synonymous_variant | Exon 7 of 14 | XP_047281072.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000635 AC: 1AN: 157562Hom.: 0 AF XY: 0.0000120 AC XY: 1AN XY: 83204
GnomAD4 exome AF: 0.0000336 AC: 47AN: 1399358Hom.: 0 Cov.: 30 AF XY: 0.0000333 AC XY: 23AN XY: 690182
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Dilated cardiomyopathy 1DD Benign:1
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Cardiovascular phenotype Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at