17-63436148-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_001915.4(CYB561):c.207G>A(p.Leu69Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00129 in 1,613,808 control chromosomes in the GnomAD database, including 28 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001915.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYB561 | NM_001915.4 | c.207G>A | p.Leu69Leu | synonymous_variant | Exon 3 of 6 | ENST00000360793.8 | NP_001906.3 | |
CYB561 | NM_001330421.2 | c.228G>A | p.Leu76Leu | synonymous_variant | Exon 3 of 6 | NP_001317350.1 | ||
CYB561 | NM_001017916.2 | c.207G>A | p.Leu69Leu | synonymous_variant | Exon 3 of 6 | NP_001017916.1 | ||
CYB561 | NM_001017917.2 | c.207G>A | p.Leu69Leu | synonymous_variant | Exon 3 of 6 | NP_001017917.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00704 AC: 1071AN: 152200Hom.: 13 Cov.: 33
GnomAD3 exomes AF: 0.00180 AC: 451AN: 250672Hom.: 7 AF XY: 0.00149 AC XY: 202AN XY: 135594
GnomAD4 exome AF: 0.000686 AC: 1002AN: 1461490Hom.: 14 Cov.: 32 AF XY: 0.000612 AC XY: 445AN XY: 727036
GnomAD4 genome AF: 0.00706 AC: 1075AN: 152318Hom.: 14 Cov.: 33 AF XY: 0.00673 AC XY: 501AN XY: 74486
ClinVar
Submissions by phenotype
CYB561-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at