16-368574-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000199706.13(MRPL28):c.503G>A(p.Arg168Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000876 in 1,598,876 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R168W) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000199706.13 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRPL28 | NM_006428.5 | c.503G>A | p.Arg168Gln | missense_variant | 4/6 | ENST00000199706.13 | NP_006419.2 | |
MRPL28 | XM_005255041.3 | c.503G>A | p.Arg168Gln | missense_variant | 4/6 | XP_005255098.1 | ||
MRPL28 | XM_011522351.3 | c.503G>A | p.Arg168Gln | missense_variant | 4/6 | XP_011520653.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL28 | ENST00000199706.13 | c.503G>A | p.Arg168Gln | missense_variant | 4/6 | 1 | NM_006428.5 | ENSP00000199706 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152224Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000165 AC: 4AN: 241778Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 130578
GnomAD4 exome AF: 0.00000760 AC: 11AN: 1446652Hom.: 0 Cov.: 34 AF XY: 0.00000697 AC XY: 5AN XY: 717702
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152224Hom.: 0 Cov.: 34 AF XY: 0.0000269 AC XY: 2AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 04, 2024 | The c.503G>A (p.R168Q) alteration is located in exon 4 (coding exon 3) of the MRPL28 gene. This alteration results from a G to A substitution at nucleotide position 503, causing the arginine (R) at amino acid position 168 to be replaced by a glutamine (Q). 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