6-30619527-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_014046.4(MRPS18B):c.113C>T(p.Ser38Phe) 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. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014046.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
MRPS18B | ENST00000259873.5 | c.113C>T | p.Ser38Phe | missense_variant | Exon 2 of 7 | 1 | NM_014046.4 | ENSP00000259873.4 | ||
MRPS18B | ENST00000472267.5 | n.127C>T | non_coding_transcript_exon_variant | Exon 2 of 5 | 1 | |||||
MRPS18B | ENST00000472229.1 | n.119C>T | non_coding_transcript_exon_variant | Exon 2 of 7 | 3 | |||||
MRPS18B | ENST00000492316.5 | n.136C>T | non_coding_transcript_exon_variant | Exon 2 of 4 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.113C>T (p.S38F) alteration is located in exon 2 (coding exon 2) of the MRPS18B gene. This alteration results from a C to T substitution at nucleotide position 113, causing the serine (S) at amino acid position 38 to be replaced by a phenylalanine (F). 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
Publications
No publications associated with this variant yet.