chr3-49104426-G-A
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBS1BS2
The ENST00000464962.6(QARS1):c.-273C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00151 in 1,614,224 control chromosomes in the GnomAD database, including 30 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
ENST00000464962.6 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
QARS1 | NM_005051.3 | c.163C>T | p.Leu55Leu | synonymous_variant | Exon 2 of 24 | ENST00000306125.12 | NP_005042.1 | |
QARS1 | NM_001272073.2 | c.163C>T | p.Leu55Leu | synonymous_variant | Exon 2 of 24 | NP_001259002.1 | ||
QARS1 | XM_017006965.3 | c.163C>T | p.Leu55Leu | synonymous_variant | Exon 2 of 23 | XP_016862454.2 | ||
QARS1 | NR_073590.2 | n.187C>T | non_coding_transcript_exon_variant | Exon 2 of 24 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00215 AC: 327AN: 152242Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00366 AC: 921AN: 251440Hom.: 12 AF XY: 0.00294 AC XY: 400AN XY: 135910
GnomAD4 exome AF: 0.00144 AC: 2107AN: 1461864Hom.: 28 Cov.: 32 AF XY: 0.00135 AC XY: 983AN XY: 727226
GnomAD4 genome AF: 0.00216 AC: 329AN: 152360Hom.: 2 Cov.: 32 AF XY: 0.00231 AC XY: 172AN XY: 74514
ClinVar
Submissions by phenotype
not specified Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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not provided Benign:2
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QARS1: BS1, BS2 -
QARS1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at