8-120443278-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014078.6(MRPL13):āc.58C>Gā(p.Leu20Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000276 in 1,449,690 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014078.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD3 exomes AF: 0.00000417 AC: 1AN: 239844Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 129816
GnomAD4 exome AF: 0.00000276 AC: 4AN: 1449690Hom.: 0 Cov.: 30 AF XY: 0.00000139 AC XY: 1AN XY: 721006
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.58C>G (p.L20V) alteration is located in exon 2 (coding exon 2) of the MRPL13 gene. This alteration results from a C to G substitution at nucleotide position 58, causing the leucine (L) at amino acid position 20 to be replaced by a valine (V). 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