X-130412408-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_016024.4(RBMX2):c.529C>T(p.Arg177Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000035 in 1,171,875 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 18 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016024.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000278 AC: 3AN: 107860Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0AN XY: 30388
GnomAD3 exomes AF: 0.0000780 AC: 12AN: 153801Hom.: 0 AF XY: 0.0000966 AC XY: 5AN XY: 51737
GnomAD4 exome AF: 0.0000357 AC: 38AN: 1064015Hom.: 0 Cov.: 32 AF XY: 0.0000524 AC XY: 18AN XY: 343813
GnomAD4 genome AF: 0.0000278 AC: 3AN: 107860Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0AN XY: 30388
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.529C>T (p.R177W) alteration is located in exon 6 (coding exon 6) of the RBMX2 gene. This alteration results from a C to T substitution at nucleotide position 529, causing the arginine (R) at amino acid position 177 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