8-120432053-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014078.6(MRPL13):āc.222A>Cā(p.Gln74His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000292 in 1,608,576 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 ).
Frequency
Consequence
NM_014078.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL13 | ENST00000306185.8 | c.222A>C | p.Gln74His | missense_variant | Exon 3 of 7 | 1 | NM_014078.6 | ENSP00000306548.3 | ||
MRPL13 | ENST00000518696.5 | n.152-6687A>C | intron_variant | Intron 2 of 5 | 1 | ENSP00000428867.1 | ||||
MRPL13 | ENST00000518918.1 | c.150A>C | p.Gln50His | missense_variant | Exon 3 of 6 | 2 | ENSP00000430545.1 | |||
MRPL13 | ENST00000520677.1 | n.157-6687A>C | intron_variant | Intron 2 of 3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000323 AC: 8AN: 247914Hom.: 0 AF XY: 0.0000298 AC XY: 4AN XY: 134084
GnomAD4 exome AF: 0.0000302 AC: 44AN: 1456446Hom.: 0 Cov.: 29 AF XY: 0.0000304 AC XY: 22AN XY: 724560
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.222A>C (p.Q74H) alteration is located in exon 3 (coding exon 3) of the MRPL13 gene. This alteration results from a A to C substitution at nucleotide position 222, causing the glutamine (Q) at amino acid position 74 to be replaced by a histidine (H). 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