chr8-120414045-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014078.6(MRPL13):c.461G>A(p.Arg154His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000231 in 1,602,272 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
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000659 AC: 10AN: 151818Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000821 AC: 2AN: 243562Hom.: 0 AF XY: 0.00000759 AC XY: 1AN XY: 131694
GnomAD4 exome AF: 0.0000186 AC: 27AN: 1450454Hom.: 0 Cov.: 30 AF XY: 0.0000208 AC XY: 15AN XY: 721030
GnomAD4 genome AF: 0.0000659 AC: 10AN: 151818Hom.: 0 Cov.: 32 AF XY: 0.0000674 AC XY: 5AN XY: 74144
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.461G>A (p.R154H) alteration is located in exon 6 (coding exon 6) of the MRPL13 gene. This alteration results from a G to A substitution at nucleotide position 461, causing the arginine (R) at amino acid position 154 to be replaced by a histidine (H). 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