rs1057516072
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Mitomap GenBank:
Absent
Consequence
CYTB
missense
missense
Scores
Apogee2
Pathogenic
Clinical Significance
Mitochondrial-Respiratory-Chain-Disorder
Conservation
PhyloP100: 6.20
Genes affected
CYTB (HGNC:7427): (mitochondrially encoded cytochrome b) Predicted to enable metal ion binding activity. Predicted to be involved in several processes, including electron transport coupled proton transport; response to cobalamin; and response to glucagon. Located in mitochondrion. Implicated in ovarian carcinoma and urinary bladder cancer. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
No frequency data in Mitomap. Probably very rare.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYTB | unassigned_transcript_4818 | c.314G>A | p.Gly105Glu | missense_variant | Exon 1 of 1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|
Frequencies
GnomAD4 exome Cov.: 0
GnomAD4 exome
Cov.:
0
We have no GnomAD4 genomes data on this position. Probably position not covered by the project.
Mitomap
Mitochondrial-Respiratory-Chain-Disorder
ClinVar
Significance: Uncertain significance
Submissions summary: Pathogenic:1Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Epilepsy;CN239810:Bilateral lesions of basal ganglia Pathogenic:1
Nov 21, 2016
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
Significance: Likely pathogenic
Review Status: no assertion criteria provided
Collection Method: clinical testing
- -
Leigh syndrome Uncertain:1
Oct 17, 2019
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
Significance: Uncertain significance
Review Status: criteria provided, single submitter
Collection Method: clinical testing
The NC_012920.1:m.15060G>A (YP_003024038.1:p.Gly105Glu) variant in MTCYB gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PP7 -
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Apogee2
Pathogenic
Hmtvar
Pathogenic
AlphaMissense
Pathogenic
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at