NM_020745.4:c.2893G>A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_020745.4(AARS2):c.2893G>A(p.Gly965Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000186 in 1,614,026 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020745.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AARS2 | ENST00000244571.5 | c.2893G>A | p.Gly965Arg | missense_variant | Exon 22 of 22 | 1 | NM_020745.4 | ENSP00000244571.4 | ||
ENSG00000272442 | ENST00000505802.1 | n.313-6331C>T | intron_variant | Intron 1 of 9 | 2 | ENSP00000424257.1 | ||||
TMEM151B | ENST00000438774.2 | c.577-6331C>T | intron_variant | Intron 2 of 2 | 3 | ENSP00000409337.2 | ||||
AARS2 | ENST00000491573.1 | n.695G>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152218Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251394Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135896
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461690Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 727162
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152336Hom.: 0 Cov.: 34 AF XY: 0.0000269 AC XY: 2AN XY: 74482
ClinVar
Submissions by phenotype
Leukoencephalopathy, progressive, with ovarian failure Pathogenic:1
- -
not provided Uncertain:1
This variant is associated with the following publications: (PMID: 25705216, 24808023, 30706699, 27159321) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at