1-110339831-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_022768.5(RBM15):āc.426C>Gā(p.Ser142Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000938 in 1,599,188 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_022768.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RBM15 | NM_022768.5 | c.426C>G | p.Ser142Arg | missense_variant | 1/3 | ENST00000369784.9 | NP_073605.4 | |
RBM15 | NM_001201545.2 | c.426C>G | p.Ser142Arg | missense_variant | 1/2 | NP_001188474.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBM15 | ENST00000369784.9 | c.426C>G | p.Ser142Arg | missense_variant | 1/3 | 1 | NM_022768.5 | ENSP00000358799 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000824 AC: 2AN: 242782Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132314
GnomAD4 exome AF: 0.00000898 AC: 13AN: 1447030Hom.: 0 Cov.: 37 AF XY: 0.00000976 AC XY: 7AN XY: 717346
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 23, 2022 | The c.426C>G (p.S142R) alteration is located in exon 1 (coding exon 1) of the RBM15 gene. This alteration results from a C to G substitution at nucleotide position 426, causing the serine (S) at amino acid position 142 to be replaced by an arginine (R). 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