5-146229877-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_018989.2(RBM27):c.556C>T(p.Arg186Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,613,638 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R186H) has been classified 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 -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBM27 | ENST00000265271.7 | c.556C>T | p.Arg186Cys | missense_variant | Exon 5 of 21 | 1 | NM_018989.2 | ENSP00000265271.5 | ||
ENSG00000275740 | ENST00000506502.2 | c.556C>T | p.Arg186Cys | missense_variant | Exon 5 of 20 | 5 | ENSP00000475384.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151982Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000771 AC: 19AN: 246396Hom.: 0 AF XY: 0.0000820 AC XY: 11AN XY: 134150
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461656Hom.: 0 Cov.: 30 AF XY: 0.0000193 AC XY: 14AN XY: 727138
GnomAD4 genome AF: 0.0000329 AC: 5AN: 151982Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74210
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.556C>T (p.R186C) 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 556, causing the arginine (R) at amino acid position 186 to be replaced by a cysteine (C). 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