12-113858826-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016196.4(RBM19):c.2629G>A(p.Gly877Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000527 in 1,614,108 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBM19 | ENST00000261741.10 | c.2629G>A | p.Gly877Ser | missense_variant | Exon 22 of 24 | 1 | NM_016196.4 | ENSP00000261741.5 | ||
RBM19 | ENST00000392561.7 | c.2629G>A | p.Gly877Ser | missense_variant | Exon 22 of 25 | 1 | ENSP00000376344.3 | |||
RBM19 | ENST00000545145.6 | c.2629G>A | p.Gly877Ser | missense_variant | Exon 22 of 25 | 2 | ENSP00000442053.2 | |||
RBM19 | ENST00000552384.1 | n.79G>A | non_coding_transcript_exon_variant | Exon 1 of 4 | 3 | ENSP00000449604.1 |
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152114Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000119 AC: 30AN: 251476Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135910
GnomAD4 exome AF: 0.0000451 AC: 66AN: 1461876Hom.: 0 Cov.: 31 AF XY: 0.0000371 AC XY: 27AN XY: 727238
GnomAD4 genome AF: 0.000125 AC: 19AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74422
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2629G>A (p.G877S) alteration is located in exon 22 (coding exon 22) of the RBM19 gene. This alteration results from a G to A substitution at nucleotide position 2629, causing the glycine (G) at amino acid position 877 to be replaced by a serine (S). 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