2-105089047-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_182640.3(MRPS9):c.553C>T(p.Leu185Phe) 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_182640.3 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 |
---|---|---|---|---|---|---|---|---|
MRPS9 | NM_182640.3 | c.553C>T | p.Leu185Phe | missense_variant | Exon 6 of 11 | ENST00000258455.8 | NP_872578.1 | |
MRPS9 | XM_011511644.3 | c.181C>T | p.Leu61Phe | missense_variant | Exon 5 of 10 | XP_011509946.1 | ||
MRPS9 | XM_047445533.1 | c.553C>T | p.Leu185Phe | missense_variant | Exon 6 of 7 | XP_047301489.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPS9 | ENST00000258455.8 | c.553C>T | p.Leu185Phe | missense_variant | Exon 6 of 11 | 1 | NM_182640.3 | ENSP00000258455.3 | ||
MRPS9 | ENST00000413583.5 | n.28C>T | non_coding_transcript_exon_variant | Exon 1 of 6 | 3 | ENSP00000388885.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 29
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
MRPS9: PM2, BP4 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.