3-49101888-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005051.3(QARS1):āc.643G>Cā(p.Asp215His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,192 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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_005051.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
QARS1 | NM_005051.3 | c.643G>C | p.Asp215His | missense_variant | 8/24 | ENST00000306125.12 | NP_005042.1 | |
QARS1 | NM_001272073.2 | c.610G>C | p.Asp204His | missense_variant | 8/24 | NP_001259002.1 | ||
QARS1 | XM_017006965.3 | c.643G>C | p.Asp215His | missense_variant | 8/23 | XP_016862454.2 | ||
QARS1 | NR_073590.2 | n.618G>C | non_coding_transcript_exon_variant | 8/24 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245514Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132922
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459192Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 725764
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at