chr15-101724101-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_152334.3(TARS3):āc.287C>Gā(p.Ala96Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.297 in 1,363,024 control chromosomes in the GnomAD database, including 68,648 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 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 Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TARS3 | NM_152334.3 | c.287C>G | p.Ala96Gly | missense_variant | 1/19 | ENST00000335968.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TARS3 | ENST00000335968.8 | c.287C>G | p.Ala96Gly | missense_variant | 1/19 | 1 | NM_152334.3 | P1 | |
TARS3 | ENST00000539112.5 | c.287C>G | p.Ala96Gly | missense_variant, NMD_transcript_variant | 1/20 | 1 | |||
TARS3 | ENST00000615656.1 | c.287C>G | p.Ala96Gly | missense_variant | 1/19 | 5 |
Frequencies
GnomAD3 genomes AF: 0.318 AC: 48360AN: 152088Hom.: 8871 Cov.: 34
GnomAD3 exomes AF: 0.425 AC: 8145AN: 19156Hom.: 2000 AF XY: 0.414 AC XY: 4647AN XY: 11238
GnomAD4 exome AF: 0.294 AC: 355973AN: 1210824Hom.: 59772 Cov.: 34 AF XY: 0.300 AC XY: 175629AN XY: 585672
GnomAD4 genome AF: 0.318 AC: 48382AN: 152200Hom.: 8876 Cov.: 34 AF XY: 0.329 AC XY: 24501AN XY: 74412
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at