NM_018060.4:c.23G>T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_018060.4(IARS2):c.23G>T(p.Arg8Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0231 in 1,593,820 control chromosomes in the GnomAD database, including 735 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_018060.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0176 AC: 2678AN: 152186Hom.: 41 Cov.: 32
GnomAD3 exomes AF: 0.0281 AC: 5950AN: 211996Hom.: 166 AF XY: 0.0322 AC XY: 3789AN XY: 117700
GnomAD4 exome AF: 0.0237 AC: 34215AN: 1441518Hom.: 694 Cov.: 32 AF XY: 0.0259 AC XY: 18515AN XY: 715592
GnomAD4 genome AF: 0.0176 AC: 2677AN: 152302Hom.: 41 Cov.: 32 AF XY: 0.0183 AC XY: 1363AN XY: 74474
ClinVar
Submissions by phenotype
not provided Benign:3Other:1
Variant interpretted as Likely benign and reported on 10/30/2014 by GTR ID 320384. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. -
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not specified Benign:1
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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at