3-51391509-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_013286.5(RBM15B):c.110C>T(p.Ala37Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000098 in 1,214,350 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 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: 0.000507 AC: 76AN: 149952Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000404 AC: 43AN: 1064292Hom.: 0 Cov.: 31 AF XY: 0.0000295 AC XY: 15AN XY: 508768
GnomAD4 genome AF: 0.000506 AC: 76AN: 150058Hom.: 0 Cov.: 32 AF XY: 0.000478 AC XY: 35AN XY: 73276
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.110C>T (p.A37V) 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 110, causing the alanine (A) at amino acid position 37 to be replaced by a valine (V). 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