6-44306384-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_020745.4(AARS2):āc.1196A>Cā(p.Asn399Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,870 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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_020745.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AARS2 | NM_020745.4 | c.1196A>C | p.Asn399Thr | missense_variant | Exon 9 of 22 | ENST00000244571.5 | NP_065796.2 | |
AARS2 | XM_005249245.4 | c.905A>C | p.Asn302Thr | missense_variant | Exon 7 of 20 | XP_005249302.1 | ||
AARS2 | XR_007059282.1 | n.1220A>C | non_coding_transcript_exon_variant | Exon 9 of 14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AARS2 | ENST00000244571.5 | c.1196A>C | p.Asn399Thr | missense_variant | Exon 9 of 22 | 1 | NM_020745.4 | ENSP00000244571.4 | ||
ENSG00000272442 | ENST00000505802.1 | n.313-559T>G | intron_variant | Intron 1 of 9 | 2 | ENSP00000424257.1 | ||||
TMEM151B | ENST00000438774.2 | c.577-559T>G | intron_variant | Intron 2 of 2 | 3 | ENSP00000409337.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461870Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727236
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.