1-156737426-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_145729.3(MRPL24):c.623G>A(p.Arg208Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000119 in 1,603,124 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145729.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRPL24 | NM_145729.3 | c.623G>A | p.Arg208Gln | missense_variant | Exon 6 of 6 | ENST00000361531.6 | NP_663781.1 | |
MRPL24 | NM_024540.4 | c.623G>A | p.Arg208Gln | missense_variant | Exon 6 of 6 | NP_078816.2 | ||
MRPL24 | XM_011509981.3 | c.623G>A | p.Arg208Gln | missense_variant | Exon 6 of 6 | XP_011508283.1 | ||
MRPL24 | XM_011509982.3 | c.623G>A | p.Arg208Gln | missense_variant | Exon 6 of 6 | XP_011508284.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL24 | ENST00000361531.6 | c.623G>A | p.Arg208Gln | missense_variant | Exon 6 of 6 | 1 | NM_145729.3 | ENSP00000354525.2 | ||
MRPL24 | ENST00000368211.8 | c.623G>A | p.Arg208Gln | missense_variant | Exon 6 of 6 | 1 | ENSP00000357194.4 | |||
MRPL24 | ENST00000478899.1 | n.437G>A | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 | |||||
MRPL24 | ENST00000434558.5 | c.*104G>A | downstream_gene_variant | 5 | ENSP00000411369.1 |
Frequencies
GnomAD3 genomes AF: 0.000309 AC: 47AN: 152150Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000237 AC: 57AN: 240312Hom.: 1 AF XY: 0.000246 AC XY: 32AN XY: 129912
GnomAD4 exome AF: 0.0000986 AC: 143AN: 1450856Hom.: 0 Cov.: 31 AF XY: 0.000108 AC XY: 78AN XY: 721580
GnomAD4 genome AF: 0.000309 AC: 47AN: 152268Hom.: 1 Cov.: 32 AF XY: 0.000416 AC XY: 31AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.623G>A (p.R208Q) alteration is located in exon 6 (coding exon 5) of the MRPL24 gene. This alteration results from a G to A substitution at nucleotide position 623, causing the arginine (R) at amino acid position 208 to be replaced by a glutamine (Q). 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