chr19-15922135-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_021187.4(CYP4F11):c.1017G>C(p.Trp339Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000131 in 1,613,242 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021187.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152068Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000204 AC: 51AN: 250176Hom.: 0 AF XY: 0.000296 AC XY: 40AN XY: 135188
GnomAD4 exome AF: 0.000140 AC: 204AN: 1461056Hom.: 1 Cov.: 31 AF XY: 0.000191 AC XY: 139AN XY: 726862
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152186Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74406
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1017G>C (p.W339C) alteration is located in exon 8 (coding exon 8) of the CYP4F11 gene. This alteration results from a G to C substitution at nucleotide position 1017, causing the tryptophan (W) at amino acid position 339 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