chr11-7665427-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016229.5(CYB5R2):c.778C>T(p.His260Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,459,466 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016229.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.00000405 AC: 1AN: 246696Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133256
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459466Hom.: 0 Cov.: 41 AF XY: 0.00 AC XY: 0AN XY: 725872
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.778C>T (p.H260Y) alteration is located in exon 9 (coding exon 8) of the CYB5R2 gene. This alteration results from a C to T substitution at nucleotide position 778, causing the histidine (H) at amino acid position 260 to be replaced by a tyrosine (Y). 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