17-63435135-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001915.4(CYB561):c.514G>A(p.Val172Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000229 in 1,614,028 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001915.4 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 |
---|---|---|---|---|---|---|---|
CYB561 | NM_001915.4 | c.514G>A | p.Val172Met | missense_variant | 5/6 | ENST00000360793.8 | |
CYB561 | NM_001330421.2 | c.535G>A | p.Val179Met | missense_variant | 5/6 | ||
CYB561 | NM_001017916.2 | c.514G>A | p.Val172Met | missense_variant | 5/6 | ||
CYB561 | NM_001017917.2 | c.514G>A | p.Val172Met | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYB561 | ENST00000360793.8 | c.514G>A | p.Val172Met | missense_variant | 5/6 | 1 | NM_001915.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152244Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251268Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135832
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461784Hom.: 0 Cov.: 32 AF XY: 0.0000179 AC XY: 13AN XY: 727198
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152244Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 25, 2023 | The c.514G>A (p.V172M) alteration is located in exon 5 (coding exon 4) of the CYB561 gene. This alteration results from a G to A substitution at nucleotide position 514, causing the valine (V) at amino acid position 172 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at