20-57407674-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017495.6(RBM38):c.548C>T(p.Pro183Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000242 in 1,612,720 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_017495.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152138Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000808 AC: 2AN: 247438Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134716
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1460582Hom.: 0 Cov.: 32 AF XY: 0.0000275 AC XY: 20AN XY: 726638
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152138Hom.: 0 Cov.: 34 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.548C>T (p.P183L) alteration is located in exon 4 (coding exon 4) of the RBM38 gene. This alteration results from a C to T substitution at nucleotide position 548, causing the proline (P) at amino acid position 183 to be replaced by a leucine (L). 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