rs780483586
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Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP7
The NM_004990.4(MARS1):c.2511C>A(p.Ala837Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 32)
Exomes 𝑓: 0.00015 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
MARS1
NM_004990.4 synonymous
NM_004990.4 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.91
Genes affected
MARS1 (HGNC:6898): (methionyl-tRNA synthetase 1) This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -5 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BP7
Synonymous conserved (PhyloP=-1.91 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MARS1 | NM_004990.4 | c.2511C>A | p.Ala837Ala | synonymous_variant | 20/21 | ENST00000262027.10 | NP_004981.2 | |
MARS1 | XM_047428851.1 | c.1809C>A | p.Ala603Ala | synonymous_variant | 16/17 | XP_047284807.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MARS1 | ENST00000262027.10 | c.2511C>A | p.Ala837Ala | synonymous_variant | 20/21 | 1 | NM_004990.4 | ENSP00000262027.5 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 152120Hom.: 0 Cov.: 32 FAILED QC
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GnomAD3 exomes AF: 0.00114 AC: 277AN: 243876Hom.: 0 AF XY: 0.000975 AC XY: 129AN XY: 132292
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000148 AC: 216AN: 1456628Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 107AN XY: 724496
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GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 152120Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74318
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at