chr1-234374303-T-G
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_001206641.3(COA6):āc.286T>Gā(p.Trp96Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000657 in 152,108 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. W96R) has been classified as Pathogenic.
Frequency
Consequence
NM_001206641.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COA6 | NM_001206641.3 | c.286T>G | p.Trp96Gly | missense_variant | 2/3 | ENST00000366615.10 | |
COA6 | NM_001012985.2 | c.196T>G | p.Trp66Gly | missense_variant | 2/3 | ||
COA6 | NM_001301733.1 | c.58T>G | p.Trp20Gly | missense_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COA6 | ENST00000366615.10 | c.286T>G | p.Trp96Gly | missense_variant | 2/3 | 1 | NM_001206641.3 | ||
COA6 | ENST00000366613.1 | c.196T>G | p.Trp66Gly | missense_variant | 2/3 | 1 | |||
COA6 | ENST00000366612.1 | c.58T>G | p.Trp20Gly | missense_variant | 1/2 | 1 | P1 | ||
COA6 | ENST00000619305.1 | c.58T>G | p.Trp20Gly | missense_variant | 2/3 | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152108Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152108Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74310
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at