2-99195620-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000338148.8(MRPL30):āc.401T>Cā(p.Met134Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,460,698 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M134V) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000338148.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRPL30 | NM_145212.4 | c.401T>C | p.Met134Thr | missense_variant | 6/6 | ENST00000338148.8 | NP_660213.1 | |
MRPL30 | NR_028356.2 | n.494T>C | non_coding_transcript_exon_variant | 6/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL30 | ENST00000338148.8 | c.401T>C | p.Met134Thr | missense_variant | 6/6 | 1 | NM_145212.4 | ENSP00000338057.3 | ||
ENSG00000241962 | ENST00000424491.5 | n.491T>C | non_coding_transcript_exon_variant | 9/14 | 2 | ENSP00000390891.1 | ||||
MRPL30 | ENST00000409841.1 | n.401T>C | non_coding_transcript_exon_variant | 5/6 | 5 | ENSP00000386752.1 | ||||
MRPL30 | ENST00000465432.1 | n.308T>C | non_coding_transcript_exon_variant | 4/5 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250074Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135214
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460698Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726724
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 01, 2023 | The c.401T>C (p.M134T) alteration is located in exon 6 (coding exon 5) of the MRPL30 gene. This alteration results from a T to C substitution at nucleotide position 401, causing the methionine (M) at amino acid position 134 to be replaced by a threonine (T). 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