11-59806561-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017840.4(MRPL16):āc.542A>Gā(p.His181Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000917 in 1,614,136 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_017840.4 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 | UniProt |
---|---|---|---|---|---|---|---|
MRPL16 | NM_017840.4 | c.542A>G | p.His181Arg | missense_variant | 4/4 | ENST00000300151.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MRPL16 | ENST00000300151.5 | c.542A>G | p.His181Arg | missense_variant | 4/4 | 1 | NM_017840.4 | P1 | |
MRPL16 | ENST00000534340.1 | c.233A>G | p.His78Arg | missense_variant | 4/4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152246Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000557 AC: 14AN: 251490Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135918
GnomAD4 exome AF: 0.0000917 AC: 134AN: 1461890Hom.: 0 Cov.: 31 AF XY: 0.0000825 AC XY: 60AN XY: 727248
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152246Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74386
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 03, 2021 | The c.542A>G (p.H181R) alteration is located in exon 4 (coding exon 4) of the MRPL16 gene. This alteration results from a A to G substitution at nucleotide position 542, causing the histidine (H) at amino acid position 181 to be replaced by an arginine (R). 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