10-73250862-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_016065.4(MRPS16):c.404C>G(p.Thr135Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016065.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRPS16 | NM_016065.4 | c.404C>G | p.Thr135Arg | missense_variant | Exon 3 of 3 | ENST00000372945.8 | NP_057149.1 | |
MRPS16 | XM_047425263.1 | c.398C>G | p.Thr133Arg | missense_variant | Exon 3 of 3 | XP_047281219.1 | ||
MRPS16 | NM_001410935.1 | c.274+901C>G | intron_variant | Intron 2 of 2 | NP_001397864.1 | |||
DNAJC9-AS1 | NR_038373.1 | n.175+2412G>C | intron_variant | Intron 2 of 3 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 135 of the MRPS16 protein (p.Thr135Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MRPS16-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.