rs375934957
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001358921.2(COQ2):c.194A>T(p.Asp65Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000711 in 1,405,644 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign 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. D65A) has been classified as Likely benign.
Frequency
Consequence
NM_001358921.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COQ2 | NM_001358921.2 | c.194A>T | p.Asp65Val | missense_variant | 1/7 | ENST00000647002.2 | |
COQ2 | NM_015697.9 | c.344A>T | p.Asp115Val | missense_variant | 1/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COQ2 | ENST00000647002.2 | c.194A>T | p.Asp65Val | missense_variant | 1/7 | NM_001358921.2 | P2 | ||
COQ2 | ENST00000311469.9 | c.344A>T | p.Asp115Val | missense_variant | 1/7 | 1 | A2 | ||
COQ2 | ENST00000311461.7 | c.194A>T | p.Asp65Val | missense_variant | 1/7 | 5 | |||
COQ2 | ENST00000503391.5 | c.194A>T | p.Asp65Val | missense_variant, NMD_transcript_variant | 1/7 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome AF: 7.11e-7 AC: 1AN: 1405644Hom.: 0 Cov.: 84 AF XY: 0.00 AC XY: 0AN XY: 695256
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at