3-131468063-GAAA-GA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_007208.4(MRPL3):c.894+26_894+27delTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000201 in 994,204 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 29)
Exomes 𝑓: 0.0000020 ( 0 hom. )
Consequence
MRPL3
NM_007208.4 intron
NM_007208.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.90
Genes affected
MRPL3 (HGNC:10379): (mitochondrial ribosomal protein L3) Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL3 | ENST00000264995.8 | c.894+26_894+27delTT | intron_variant | Intron 9 of 9 | 1 | NM_007208.4 | ENSP00000264995.2 | |||
MRPL3 | ENST00000425847.6 | c.975+26_975+27delTT | intron_variant | Intron 10 of 10 | 2 | ENSP00000398536.2 | ||||
MRPL3 | ENST00000511168.5 | c.936+26_936+27delTT | intron_variant | Intron 9 of 9 | 2 | ENSP00000424107.1 | ||||
MRPL3 | ENST00000510043.1 | n.318+26_318+27delTT | intron_variant | Intron 3 of 3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD3 genomes
Cov.:
29
GnomAD4 exome AF: 0.00000201 AC: 2AN: 994204Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 502630
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GnomAD4 genome Cov.: 29
GnomAD4 genome
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29
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ClinVar
Not reported inComputational scores
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at