8-96235727-G-A
Variant names:
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NR_183272.1(UQCRB-AS1):n.88G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00117 in 704,098 control chromosomes in the GnomAD database, including 11 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0037 ( 6 hom., cov: 33)
Exomes 𝑓: 0.00048 ( 5 hom. )
Consequence
UQCRB-AS1
NR_183272.1 non_coding_transcript_exon
NR_183272.1 non_coding_transcript_exon
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.317
Genes affected
UQCRB-AS1 (HGNC:55521): (UQCRB antisense RNA 1)
UQCRB (HGNC:12582): (ubiquinol-cytochrome c reductase binding protein) This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.76).
BP6
Variant 8-96235727-G-A is Benign according to our data. Variant chr8-96235727-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 1201217.Status of the report is criteria_provided_single_submitter, 1 stars.
BS2
High Homozygotes in GnomAd4 at 6 gene
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00363 AC: 553AN: 152210Hom.: 6 Cov.: 33
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GnomAD4 exome AF: 0.000480 AC: 265AN: 551770Hom.: 5 AF XY: 0.000383 AC XY: 114AN XY: 297944
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GnomAD4 genome AF: 0.00366 AC: 557AN: 152328Hom.: 6 Cov.: 33 AF XY: 0.00354 AC XY: 264AN XY: 74492
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Jul 17, 2018
GeneDx
Significance: Likely benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing
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Computational scores
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Name
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at