6-30622869-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_014046.4(MRPS18B):c.392C>T(p.Thr131Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000316 in 1,612,962 control chromosomes in the GnomAD database, including 2 homozygotes. 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 Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPS18B | ENST00000259873.5 | c.392C>T | p.Thr131Met | missense_variant | Exon 5 of 7 | 1 | NM_014046.4 | ENSP00000259873.4 | ||
MRPS18B | ENST00000472267.5 | n.627C>T | non_coding_transcript_exon_variant | Exon 3 of 5 | 1 | |||||
MRPS18B | ENST00000472229.1 | n.426C>T | non_coding_transcript_exon_variant | Exon 5 of 7 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152192Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000527 AC: 13AN: 246876Hom.: 0 AF XY: 0.0000520 AC XY: 7AN XY: 134522
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1460770Hom.: 2 Cov.: 31 AF XY: 0.0000303 AC XY: 22AN XY: 726704
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152192Hom.: 0 Cov.: 31 AF XY: 0.0000672 AC XY: 5AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.392C>T (p.T131M) alteration is located in exon 5 (coding exon 5) of the MRPS18B gene. This alteration results from a C to T substitution at nucleotide position 392, causing the threonine (T) at amino acid position 131 to be replaced by a methionine (M). 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