5-146229775-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_018989.2(RBM27):c.454C>T(p.Arg152Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000533 in 1,612,366 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018989.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBM27 | ENST00000265271.7 | c.454C>T | p.Arg152Trp | missense_variant | Exon 5 of 21 | 1 | NM_018989.2 | ENSP00000265271.5 | ||
ENSG00000275740 | ENST00000506502.2 | c.454C>T | p.Arg152Trp | missense_variant | Exon 5 of 20 | 5 | ENSP00000475384.1 |
Frequencies
GnomAD3 genomes AF: 0.0000461 AC: 7AN: 151864Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000365 AC: 9AN: 246634Hom.: 0 AF XY: 0.0000447 AC XY: 6AN XY: 134272
GnomAD4 exome AF: 0.0000541 AC: 79AN: 1460502Hom.: 0 Cov.: 30 AF XY: 0.0000578 AC XY: 42AN XY: 726642
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151864Hom.: 0 Cov.: 32 AF XY: 0.0000405 AC XY: 3AN XY: 74138
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.454C>T (p.R152W) alteration is located in exon 5 (coding exon 5) of the RBM27 gene. This alteration results from a C to T substitution at nucleotide position 454, causing the arginine (R) at amino acid position 152 to be replaced by a tryptophan (W). 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