rs727504943
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001134363.3(RBM20):c.536G>A(p.Gly179Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000258 in 1,551,518 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 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBM20 | NM_001134363.3 | c.536G>A | p.Gly179Asp | missense_variant | Exon 2 of 14 | ENST00000369519.4 | NP_001127835.2 | |
RBM20 | XM_017016103.3 | c.371G>A | p.Gly124Asp | missense_variant | Exon 2 of 14 | XP_016871592.1 | ||
RBM20 | XM_017016104.3 | c.152G>A | p.Gly51Asp | missense_variant | Exon 2 of 14 | XP_016871593.1 | ||
RBM20 | XM_047425116.1 | c.152G>A | p.Gly51Asp | missense_variant | Exon 2 of 14 | XP_047281072.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152148Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000214 AC: 3AN: 1399370Hom.: 0 Cov.: 32 AF XY: 0.00000145 AC XY: 1AN XY: 690184
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
The p.Gly179Asp variant in RBM20 has been identified by our laboratory in 1 adul t with HCM who carried a pathogenic variant in another gene that was sufficient to explain the disease. Data from large population studies are insufficient to a ssess the frequency of this variant. Computational prediction tools and conserva tion analysis do not provide strong support for or against an impact to the prot ein. In summary, the clinical significance of the p.Gly179Asp variant is uncerta in. -
Cardiomyopathy Uncertain:1
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Left ventricular noncompaction cardiomyopathy Uncertain:1
This variant has been identified as part of our research program. Refer to the 'condition' field for the phenotype of the proband identified with this variant. For further information please feel free to contact us. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at