9-128332183-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM2PM5PP3_ModeratePP5
The NM_016035.5(COQ4):c.433C>T(p.Arg145Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00001 in 1,592,096 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. R145G) 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>T | p.Arg145Cys | missense_variant | 5/7 | ENST00000300452.8 | |
COQ4 | XM_047423449.1 | c.*33C>T | 3_prime_UTR_variant | 4/4 | |||
COQ4 | NM_001305942.2 | c.*3-1291C>T | intron_variant | ||||
COQ4 | XM_017014792.2 | c.*3-667C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COQ4 | ENST00000300452.8 | c.433C>T | p.Arg145Cys | missense_variant | 5/7 | 1 | NM_016035.5 | P1 | |
COQ4 | ENST00000461102.1 | n.1772C>T | non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000928 AC: 2AN: 215486Hom.: 0 AF XY: 0.0000172 AC XY: 2AN XY: 116086
GnomAD4 exome AF: 0.00000833 AC: 12AN: 1439926Hom.: 0 Cov.: 31 AF XY: 0.00000560 AC XY: 4AN XY: 714440
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74328
ClinVar
Submissions by phenotype
Spastic ataxia 10, autosomal recessive Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | May 07, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at