17-75020542-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001545.3(MRPL58):c.421C>A(p.Arg141Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000322 in 1,613,634 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001545.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRPL58 | NM_001545.3 | c.421C>A | p.Arg141Ser | missense_variant | Exon 5 of 6 | ENST00000301585.10 | NP_001536.1 | |
MRPL58 | NM_001303265.2 | c.421C>A | p.Arg141Ser | missense_variant | Exon 5 of 6 | NP_001290194.1 | ||
MRPL58 | XM_017024574.2 | c.241C>A | p.Arg81Ser | missense_variant | Exon 5 of 6 | XP_016880063.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152128Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000676 AC: 17AN: 251338Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135896
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461388Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 727014
GnomAD4 genome AF: 0.000190 AC: 29AN: 152246Hom.: 0 Cov.: 31 AF XY: 0.000148 AC XY: 11AN XY: 74474
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.421C>A (p.R141S) alteration is located in exon 5 (coding exon 5) of the MRPL58 gene. This alteration results from a C to A substitution at nucleotide position 421, causing the arginine (R) at amino acid position 141 to be replaced by a serine (S). 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