14-73950342-C-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_182476.3(COQ6):c.10C>A(p.Arg4=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,400,144 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. R4R) has been classified as Likely benign.
Frequency
Consequence
NM_182476.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COQ6 | NM_182476.3 | c.10C>A | p.Arg4= | synonymous_variant | 1/12 | ENST00000334571.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COQ6 | ENST00000334571.7 | c.10C>A | p.Arg4= | synonymous_variant | 1/12 | 1 | NM_182476.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000640 AC: 1AN: 156326Hom.: 0 AF XY: 0.0000118 AC XY: 1AN XY: 84742
GnomAD4 exome AF: 0.0000186 AC: 26AN: 1400144Hom.: 0 Cov.: 32 AF XY: 0.0000202 AC XY: 14AN XY: 691990
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Sep 13, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at