1-110339454-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_022768.5(RBM15):c.49C>T(p.Arg17Trp) variant causes a missense change. The variant allele was found at a frequency of 0.00000907 in 1,543,440 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_022768.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152036Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000205 AC: 4AN: 195430Hom.: 0 AF XY: 0.0000381 AC XY: 4AN XY: 105064
GnomAD4 exome AF: 0.00000862 AC: 12AN: 1391404Hom.: 0 Cov.: 30 AF XY: 0.0000132 AC XY: 9AN XY: 683552
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152036Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74258
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.49C>T (p.R17W) alteration is located in exon 1 (coding exon 1) of the RBM15 gene. This alteration results from a C to T substitution at nucleotide position 49, causing the arginine (R) at amino acid position 17 to be replaced by a tryptophan (W). 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