11-7665542-C-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_016229.5(CYB5R2):āc.663G>Cā(p.Trp221Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000169 in 1,601,350 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_016229.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152192Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000255 AC: 6AN: 235352Hom.: 0 AF XY: 0.0000158 AC XY: 2AN XY: 126832
GnomAD4 exome AF: 0.0000173 AC: 25AN: 1449040Hom.: 0 Cov.: 38 AF XY: 0.0000236 AC XY: 17AN XY: 720324
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152310Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74482
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.663G>C (p.W221C) alteration is located in exon 9 (coding exon 8) of the CYB5R2 gene. This alteration results from a G to C substitution at nucleotide position 663, causing the tryptophan (W) at amino acid position 221 to be replaced by a cysteine (C). 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