Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_024876.4(COQ8B):c.799+269G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.114 in 449,214 control chromosomes in the GnomAD database, including 3,363 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
COQ8B (HGNC:19041): (coenzyme Q8B) This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
COQ8B Gene-Disease associations (from GenCC):
mitochondrial disease
Inheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
Our verdict: Benign. The variant received -20 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BP6
Variant 19-40703272-C-T is Benign according to our data. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr19-40703272-C-T is described in CliVar as Benign. Clinvar id is 671728.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.138 is higher than 0.05.
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. -