9-128322839-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_016035.5(COQ4):c.-20C>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00078 in 1,534,228 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Genomes: 𝑓 0.0041 ( 5 hom., cov: 33)
Exomes 𝑓: 0.00041 ( 4 hom. )
Consequence
COQ4
NM_016035.5 5_prime_UTR
NM_016035.5 5_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: -1.56
Genes affected
COQ4 (HGNC:19693): (coenzyme Q4) This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BP6
?
Variant 9-128322839-C-G is Benign according to our data. Variant chr9-128322839-C-G is described in ClinVar as [Likely_benign]. Clinvar id is 385011.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00409 (624/152382) while in subpopulation AFR AF= 0.0145 (604/41600). AF 95% confidence interval is 0.0136. There are 5 homozygotes in gnomad4. There are 305 alleles in male gnomad4 subpopulation. Median coverage is 33. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 5 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COQ4 | NM_016035.5 | c.-20C>G | 5_prime_UTR_variant | 1/7 | ENST00000300452.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COQ4 | ENST00000300452.8 | c.-20C>G | 5_prime_UTR_variant | 1/7 | 1 | NM_016035.5 | P1 | ||
COQ4 | ENST00000608951.5 | c.-20C>G | 5_prime_UTR_variant | 1/3 | 2 | ||||
COQ4 | ENST00000609948.1 | c.-20C>G | 5_prime_UTR_variant | 1/2 | 2 | ||||
COQ4 | ENST00000372875.3 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00409 AC: 623AN: 152264Hom.: 5 Cov.: 33
GnomAD3 genomes
?
AF:
AC:
623
AN:
152264
Hom.:
Cov.:
33
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD3 exomes AF: 0.000959 AC: 133AN: 138646Hom.: 0 AF XY: 0.000785 AC XY: 60AN XY: 76430
GnomAD3 exomes
AF:
AC:
133
AN:
138646
Hom.:
AF XY:
AC XY:
60
AN XY:
76430
Gnomad AFR exome
AF:
Gnomad AMR exome
AF:
Gnomad ASJ exome
AF:
Gnomad EAS exome
AF:
Gnomad SAS exome
AF:
Gnomad FIN exome
AF:
Gnomad NFE exome
AF:
Gnomad OTH exome
AF:
GnomAD4 exome AF: 0.000414 AC: 572AN: 1381846Hom.: 4 Cov.: 30 AF XY: 0.000372 AC XY: 254AN XY: 681890
GnomAD4 exome
AF:
AC:
572
AN:
1381846
Hom.:
Cov.:
30
AF XY:
AC XY:
254
AN XY:
681890
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome ? AF: 0.00409 AC: 624AN: 152382Hom.: 5 Cov.: 33 AF XY: 0.00409 AC XY: 305AN XY: 74522
GnomAD4 genome
?
AF:
AC:
624
AN:
152382
Hom.:
Cov.:
33
AF XY:
AC XY:
305
AN XY:
74522
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
Alfa
AF:
Hom.:
Bravo
AF:
ClinVar
Significance: Likely benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Sep 22, 2017 | 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. - |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Oct 08, 2021 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at