8-120432106-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014078.6(MRPL13):c.169G>A(p.Val57Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000874 in 1,600,976 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 (★).
Frequency
Consequence
NM_014078.6 missense
Scores
Clinical Significance
Conservation
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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 |
---|---|---|---|---|---|---|---|---|---|---|
MRPL13 | ENST00000306185.8 | c.169G>A | p.Val57Ile | missense_variant | Exon 3 of 7 | 1 | NM_014078.6 | ENSP00000306548.3 | ||
MRPL13 | ENST00000518696.5 | n.152-6740G>A | intron_variant | Intron 2 of 5 | 1 | ENSP00000428867.1 | ||||
MRPL13 | ENST00000518918.1 | c.97G>A | p.Val33Ile | missense_variant | Exon 3 of 6 | 2 | ENSP00000430545.1 | |||
MRPL13 | ENST00000520677.1 | n.157-6740G>A | intron_variant | Intron 2 of 3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152014Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000166 AC: 4AN: 241450Hom.: 0 AF XY: 0.00000767 AC XY: 1AN XY: 130446
GnomAD4 exome AF: 0.00000759 AC: 11AN: 1448962Hom.: 0 Cov.: 29 AF XY: 0.00000416 AC XY: 3AN XY: 720402
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152014Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74226
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.169G>A (p.V57I) alteration is located in exon 3 (coding exon 3) of the MRPL13 gene. This alteration results from a G to A substitution at nucleotide position 169, causing the valine (V) at amino acid position 57 to be replaced by an isoleucine (I). 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