rs4593
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002047.4(GARS1):c.2145A>C(p.Thr715=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,608,832 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. T715T) has been classified as Benign.
Frequency
Consequence
NM_002047.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GARS1 | NM_002047.4 | c.2145A>C | p.Thr715= | synonymous_variant | 17/17 | ENST00000389266.8 | |
GARS1 | NM_001316772.1 | c.1983A>C | p.Thr661= | synonymous_variant | 17/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GARS1 | ENST00000389266.8 | c.2145A>C | p.Thr715= | synonymous_variant | 17/17 | 1 | NM_002047.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151860Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249520Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135374
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1456972Hom.: 0 Cov.: 42 AF XY: 0.00 AC XY: 0AN XY: 724756
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 151860Hom.: 0 Cov.: 31 AF XY: 0.0000270 AC XY: 2AN XY: 74172
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at