5-44809180-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016640.4(MRPS30):c.218C>G(p.Ala73Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000085 in 1,612,274 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_016640.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152222Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000203 AC: 5AN: 246128Hom.: 0 AF XY: 0.0000298 AC XY: 4AN XY: 134130
GnomAD4 exome AF: 0.0000870 AC: 127AN: 1460052Hom.: 0 Cov.: 32 AF XY: 0.0000812 AC XY: 59AN XY: 726372
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152222Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.218C>G (p.A73G) alteration is located in exon 1 (coding exon 1) of the MRPS30 gene. This alteration results from a C to G substitution at nucleotide position 218, causing the alanine (A) at amino acid position 73 to be replaced by a glycine (G). 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