20-57407782-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017495.6(RBM38):c.656C>G(p.Ala219Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000998 in 1,603,730 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_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: 0.0000197 AC: 3AN: 152258Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000133 AC: 3AN: 225964Hom.: 0 AF XY: 0.00000803 AC XY: 1AN XY: 124464
GnomAD4 exome AF: 0.00000896 AC: 13AN: 1451472Hom.: 0 Cov.: 32 AF XY: 0.00000693 AC XY: 5AN XY: 721604
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152258Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74390
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.656C>G (p.A219G) alteration is located in exon 4 (coding exon 4) of the RBM38 gene. This alteration results from a C to G substitution at nucleotide position 656, causing the alanine (A) at amino acid position 219 to be replaced by a glycine (G). 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