rs746278949
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_023936.2(MRPS34):c.592A>G(p.Met198Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000111 in 1,612,850 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_023936.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPS34 | ENST00000397375.7 | c.592A>G | p.Met198Val | missense_variant | Exon 3 of 3 | 1 | NM_023936.2 | ENSP00000380531.3 | ||
MRPS34 | ENST00000177742.7 | c.613A>G | p.Met205Val | missense_variant | Exon 3 of 3 | 1 | ENSP00000177742.3 | |||
MRPS34 | ENST00000569585.1 | n.323A>G | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152238Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000244 AC: 61AN: 250114Hom.: 1 AF XY: 0.000339 AC XY: 46AN XY: 135596
GnomAD4 exome AF: 0.000118 AC: 172AN: 1460612Hom.: 7 Cov.: 32 AF XY: 0.000182 AC XY: 132AN XY: 726614
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152238Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74380
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at