rs201758363
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 2P and 16B. PVS1_ModerateBP6_Very_StrongBS1BS2
The NM_024537.4(CARS2):c.572-3_572-2delCA variant causes a splice acceptor, splice region, intron change. The variant allele was found at a frequency of 0.00161 in 1,576,954 control chromosomes in the GnomAD database, including 41 homozygotes. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_024537.4 splice_acceptor, splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00895 AC: 1362AN: 152202Hom.: 18 Cov.: 33
GnomAD3 exomes AF: 0.00222 AC: 499AN: 224320Hom.: 6 AF XY: 0.00158 AC XY: 193AN XY: 122078
GnomAD4 exome AF: 0.000823 AC: 1173AN: 1424634Hom.: 23 AF XY: 0.000710 AC XY: 502AN XY: 707486
GnomAD4 genome AF: 0.00894 AC: 1361AN: 152320Hom.: 18 Cov.: 33 AF XY: 0.00849 AC XY: 632AN XY: 74482
ClinVar
Submissions by phenotype
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. -
Combined oxidative phosphorylation defect type 27 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at