rs1143138
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152334.3(TARS3):c.287C>T(p.Ala96Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000826 in 1,211,156 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/22 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_152334.3 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 |
---|---|---|---|---|---|---|---|
TARS3 | NM_152334.3 | c.287C>T | p.Ala96Val | missense_variant | 1/19 | ENST00000335968.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TARS3 | ENST00000335968.8 | c.287C>T | p.Ala96Val | missense_variant | 1/19 | 1 | NM_152334.3 | P1 | |
TARS3 | ENST00000539112.5 | c.287C>T | p.Ala96Val | missense_variant, NMD_transcript_variant | 1/20 | 1 | |||
TARS3 | ENST00000615656.1 | c.287C>T | p.Ala96Val | missense_variant | 1/19 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome AF: 8.26e-7 AC: 1AN: 1211156Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 585850
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at