12-113918401-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_016196.4(RBM19):c.2432G>A(p.Arg811Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000818 in 1,613,872 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_016196.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBM19 | ENST00000261741.10 | c.2432G>A | p.Arg811Gln | missense_variant | Exon 20 of 24 | 1 | NM_016196.4 | ENSP00000261741.5 | ||
RBM19 | ENST00000392561.7 | c.2432G>A | p.Arg811Gln | missense_variant | Exon 20 of 25 | 1 | ENSP00000376344.3 | |||
RBM19 | ENST00000545145.6 | c.2432G>A | p.Arg811Gln | missense_variant | Exon 20 of 25 | 2 | ENSP00000442053.2 | |||
RBM19 | ENST00000552386.1 | n.566G>A | non_coding_transcript_exon_variant | Exon 4 of 5 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000790 AC: 12AN: 151926Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000151 AC: 38AN: 251364Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135866
GnomAD4 exome AF: 0.0000821 AC: 120AN: 1461826Hom.: 0 Cov.: 31 AF XY: 0.0000701 AC XY: 51AN XY: 727212
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152046Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2432G>A (p.R811Q) alteration is located in exon 20 (coding exon 20) of the RBM19 gene. This alteration results from a G to A substitution at nucleotide position 2432, causing the arginine (R) at amino acid position 811 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at