1-150497543-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_025150.5(TARS2):c.1034A>G(p.His345Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00666 in 1,614,066 control chromosomes in the GnomAD database, including 55 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. H345H) has been classified as Likely benign.
Frequency
Consequence
NM_025150.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00536 AC: 815AN: 152170Hom.: 6 Cov.: 32
GnomAD3 exomes AF: 0.00496 AC: 1245AN: 251124Hom.: 4 AF XY: 0.00481 AC XY: 653AN XY: 135784
GnomAD4 exome AF: 0.00679 AC: 9932AN: 1461778Hom.: 49 Cov.: 31 AF XY: 0.00662 AC XY: 4812AN XY: 727198
GnomAD4 genome AF: 0.00535 AC: 815AN: 152288Hom.: 6 Cov.: 32 AF XY: 0.00551 AC XY: 410AN XY: 74464
ClinVar
Submissions by phenotype
not provided Benign:6
- -
- -
TARS2: BP4, BS2 -
- -
- -
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at