NM_006003.3:c.24A>C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_006003.3(UQCRFS1):āc.24A>Cā(p.Ser8Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000197 in 152,118 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S8S) has been classified as Benign.
Frequency
Consequence
NM_006003.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UQCRFS1 | ENST00000304863.6 | c.24A>C | p.Ser8Ser | synonymous_variant | Exon 1 of 2 | 1 | NM_006003.3 | ENSP00000306397.3 | ||
UQCRFS1-DT | ENST00000587859.1 | n.-140T>G | upstream_gene_variant | 2 | ||||||
UQCRFS1-DT | ENST00000590607.2 | n.-188T>G | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152008Hom.: 0 Cov.: 37
GnomAD3 exomes AF: 0.00000977 AC: 1AN: 102368Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 57472
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000663 AC: 9AN: 1357846Hom.: 0 Cov.: 51 AF XY: 0.00000746 AC XY: 5AN XY: 670032
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152118Hom.: 0 Cov.: 37 AF XY: 0.0000134 AC XY: 1AN XY: 74358
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at