rs774395996
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM2PM5PP3_ModeratePP5
The NM_016035.5(COQ4):āc.433C>Gā(p.Arg145Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000000694 in 1,439,926 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R145C) has been classified as Pathogenic.
Frequency
Consequence
NM_016035.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COQ4 | NM_016035.5 | c.433C>G | p.Arg145Gly | missense_variant | 5/7 | ENST00000300452.8 | |
COQ4 | XM_047423449.1 | c.*33C>G | 3_prime_UTR_variant | 4/4 | |||
COQ4 | NM_001305942.2 | c.*3-1291C>G | intron_variant | ||||
COQ4 | XM_017014792.2 | c.*3-667C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COQ4 | ENST00000300452.8 | c.433C>G | p.Arg145Gly | missense_variant | 5/7 | 1 | NM_016035.5 | P1 | |
COQ4 | ENST00000461102.1 | n.1772C>G | non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000464 AC: 1AN: 215486Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 116086
GnomAD4 exome AF: 6.94e-7 AC: 1AN: 1439926Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 714440
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Pathogenic:1Other:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Feb 05, 2015 | - - |
not provided, no classification provided | literature only | GeneReviews | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at