rs1556423369
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The ENST00000361739.1(MT-CO2):āc.380T>Cā(p.Phe127Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 7/11 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F127L) has been classified as Benign.
Frequency
Consequence
ENST00000361739.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COX2 | COX2.1 use as main transcript | c.380T>C | p.Phe127Ser | missense_variant | 1/1 | YP_003024029.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MT-CO2 | ENST00000361739.1 | c.380T>C | p.Phe127Ser | missense_variant | 1/1 | ENSP00000354876 | P1 |
Frequencies
GnomAD4 exome Cov.: 0
Mitomap
ClinVar
Submissions by phenotype
Mitochondrial complex IV deficiency, nuclear type 1 Uncertain:1
Uncertain significance, no assertion criteria provided | clinical testing | Bodamer Research Lab, Boston Children's Hospital | Mar 29, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at