12-113823286-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_016196.4(RBM19):c.2821G>A(p.Glu941Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000453 in 1,613,110 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBM19 | ENST00000261741.10 | c.2821G>A | p.Glu941Lys | missense_variant | Exon 24 of 24 | 1 | NM_016196.4 | ENSP00000261741.5 | ||
RBM19 | ENST00000392561.7 | c.2821G>A | p.Glu941Lys | missense_variant | Exon 24 of 25 | 1 | ENSP00000376344.3 | |||
RBM19 | ENST00000545145.6 | c.2821G>A | p.Glu941Lys | missense_variant | Exon 24 of 25 | 2 | ENSP00000442053.2 | |||
RBM19 | ENST00000552384.1 | n.271G>A | non_coding_transcript_exon_variant | Exon 3 of 4 | 3 | ENSP00000449604.1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152246Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000723 AC: 18AN: 248922Hom.: 0 AF XY: 0.0000816 AC XY: 11AN XY: 134774
GnomAD4 exome AF: 0.0000431 AC: 63AN: 1460864Hom.: 0 Cov.: 32 AF XY: 0.0000399 AC XY: 29AN XY: 726802
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152246Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2821G>A (p.E941K) alteration is located in exon 24 (coding exon 24) of the RBM19 gene. This alteration results from a G to A substitution at nucleotide position 2821, causing the glutamic acid (E) at amino acid position 941 to be replaced by a lysine (K). 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