3-51391739-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_013286.5(RBM15B):c.340C>T(p.Pro114Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000538 in 1,532,860 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013286.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000540 AC: 82AN: 151762Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000337 AC: 52AN: 154240Hom.: 0 AF XY: 0.000315 AC XY: 28AN XY: 89002
GnomAD4 exome AF: 0.000538 AC: 743AN: 1380988Hom.: 0 Cov.: 32 AF XY: 0.000544 AC XY: 373AN XY: 685766
GnomAD4 genome AF: 0.000540 AC: 82AN: 151872Hom.: 2 Cov.: 32 AF XY: 0.000633 AC XY: 47AN XY: 74224
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.340C>T (p.P114S) alteration is located in exon 1 (coding exon 1) of the RBM15B gene. This alteration results from a C to T substitution at nucleotide position 340, causing the proline (P) at amino acid position 114 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