rs556155
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_002161.6(IARS1):āc.3544A>Gā(p.Lys1182Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.162 in 1,609,906 control chromosomes in the GnomAD database, including 22,850 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002161.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IARS1 | NM_002161.6 | c.3544A>G | p.Lys1182Glu | missense_variant | 32/34 | ENST00000443024.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IARS1 | ENST00000443024.7 | c.3544A>G | p.Lys1182Glu | missense_variant | 32/34 | 5 | NM_002161.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.143 AC: 21749AN: 152084Hom.: 1824 Cov.: 32
GnomAD3 exomes AF: 0.172 AC: 43150AN: 250814Hom.: 4162 AF XY: 0.178 AC XY: 24193AN XY: 135566
GnomAD4 exome AF: 0.164 AC: 239049AN: 1457704Hom.: 21017 Cov.: 31 AF XY: 0.168 AC XY: 121881AN XY: 724964
GnomAD4 genome ? AF: 0.143 AC: 21774AN: 152202Hom.: 1833 Cov.: 32 AF XY: 0.148 AC XY: 10981AN XY: 74420
ClinVar
Submissions by phenotype
IARS1-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | May 08, 2019 | 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). - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 30, 2024 | - - |
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Aug 10, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at