8-120419883-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014078.6(MRPL13):c.362T>A(p.Met121Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000107 in 1,593,972 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 (★).
Frequency
Consequence
NM_014078.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152014Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000167 AC: 4AN: 240026Hom.: 0 AF XY: 0.0000153 AC XY: 2AN XY: 130358
GnomAD4 exome AF: 0.0000104 AC: 15AN: 1441840Hom.: 0 Cov.: 29 AF XY: 0.00000837 AC XY: 6AN XY: 716978
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.362T>A (p.M121K) alteration is located in exon 5 (coding exon 5) of the MRPL13 gene. This alteration results from a T to A substitution at nucleotide position 362, causing the methionine (M) at amino acid position 121 to be replaced by a lysine (K). 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