2-95101696-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_031902.5(MRPS5):c.791G>A(p.Arg264Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000159 in 1,599,410 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031902.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPS5 | ENST00000272418.7 | c.791G>A | p.Arg264Gln | missense_variant | Exon 8 of 12 | 1 | NM_031902.5 | ENSP00000272418.2 | ||
ENSG00000289685 | ENST00000695456.1 | n.*1670G>A | non_coding_transcript_exon_variant | Exon 13 of 17 | ENSP00000511928.1 | |||||
ENSG00000289685 | ENST00000695456.1 | n.*1670G>A | 3_prime_UTR_variant | Exon 13 of 17 | ENSP00000511928.1 |
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152108Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000102 AC: 24AN: 235792Hom.: 0 AF XY: 0.0000941 AC XY: 12AN XY: 127518
GnomAD4 exome AF: 0.000160 AC: 231AN: 1447302Hom.: 0 Cov.: 29 AF XY: 0.000154 AC XY: 111AN XY: 719724
GnomAD4 genome AF: 0.000151 AC: 23AN: 152108Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.791G>A (p.R264Q) alteration is located in exon 8 (coding exon 8) of the MRPS5 gene. This alteration results from a G to A substitution at nucleotide position 791, causing the arginine (R) at amino acid position 264 to be replaced by a glutamine (Q). 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