5-146229763-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_018989.2(RBM27):c.442C>T(p.Arg148Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000105 in 1,612,186 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.442C>T | p.Arg148Trp | missense_variant | Exon 5 of 21 | 1 | NM_018989.2 | ENSP00000265271.5 | ||
ENSG00000275740 | ENST00000506502.2 | c.442C>T | p.Arg148Trp | missense_variant | Exon 5 of 20 | 5 | ENSP00000475384.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151946Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000243 AC: 6AN: 246550Hom.: 0 AF XY: 0.0000298 AC XY: 4AN XY: 134238
GnomAD4 exome AF: 0.00000959 AC: 14AN: 1460240Hom.: 0 Cov.: 30 AF XY: 0.0000165 AC XY: 12AN XY: 726556
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151946Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74190
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.442C>T (p.R148W) 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 442, causing the arginine (R) at amino acid position 148 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