NM_014161.5:c.196C>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014161.5(MRPL18):c.196C>T(p.Arg66Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000235 in 1,614,058 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014161.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL18 | ENST00000367034.5 | c.196C>T | p.Arg66Trp | missense_variant | Exon 2 of 4 | 1 | NM_014161.5 | ENSP00000356001.4 | ||
MRPL18 | ENST00000476826.5 | n.221C>T | non_coding_transcript_exon_variant | Exon 2 of 4 | 3 | |||||
MRPL18 | ENST00000479638.5 | n.439C>T | non_coding_transcript_exon_variant | Exon 3 of 4 | 5 | |||||
MRPL18 | ENST00000480842.1 | n.415C>T | non_coding_transcript_exon_variant | Exon 2 of 4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250482Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135710
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461878Hom.: 0 Cov.: 32 AF XY: 0.0000220 AC XY: 16AN XY: 727242
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152180Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.196C>T (p.R66W) alteration is located in exon 2 (coding exon 2) of the MRPL18 gene. This alteration results from a C to T substitution at nucleotide position 196, causing the arginine (R) at amino acid position 66 to be replaced by a tryptophan (W). 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