19-15525499-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_173483.4(CYP4F22):c.163C>T(p.Arg55Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,613,258 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173483.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP4F22 | NM_173483.4 | c.163C>T | p.Arg55Trp | missense_variant | Exon 3 of 14 | ENST00000269703.8 | NP_775754.2 | |
CYP4F22 | XM_011527692.3 | c.163C>T | p.Arg55Trp | missense_variant | Exon 4 of 15 | XP_011525994.1 | ||
CYP4F22 | XM_011527693.3 | c.163C>T | p.Arg55Trp | missense_variant | Exon 3 of 14 | XP_011525995.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250566Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135488
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461046Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 726856
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74354
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.163C>T (p.R55W) alteration is located in exon 3 (coding exon 1) of the CYP4F22 gene. This alteration results from a C to T substitution at nucleotide position 163, causing the arginine (R) at amino acid position 55 to be replaced by a tryptophan (W). 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