6-43671878-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018135.4(MRPS18A):c.475G>A(p.Val159Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000564 in 1,612,864 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_018135.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPS18A | ENST00000372133.8 | c.475G>A | p.Val159Ile | missense_variant | Exon 6 of 6 | 1 | NM_018135.4 | ENSP00000361206.3 | ||
RSPH9 | ENST00000372163.5 | c.*929C>T | 3_prime_UTR_variant | Exon 5 of 5 | 1 | NM_152732.5 | ENSP00000361236.4 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152200Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000204 AC: 5AN: 245564Hom.: 0 AF XY: 0.0000300 AC XY: 4AN XY: 133124
GnomAD4 exome AF: 0.0000609 AC: 89AN: 1460664Hom.: 0 Cov.: 31 AF XY: 0.0000688 AC XY: 50AN XY: 726638
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152200Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.475G>A (p.V159I) alteration is located in exon 6 (coding exon 6) of the MRPS18A gene. This alteration results from a G to A substitution at nucleotide position 475, causing the valine (V) at amino acid position 159 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