1-46934294-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_000778.4(CYP4A11):c.970G>A(p.Asp324Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000683 in 1,611,712 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 (★).
Frequency
Consequence
NM_000778.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000133 AC: 2AN: 150510Hom.: 0 Cov.: 28
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249240Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134664
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461202Hom.: 0 Cov.: 33 AF XY: 0.00000688 AC XY: 5AN XY: 726852
GnomAD4 genome AF: 0.0000133 AC: 2AN: 150510Hom.: 0 Cov.: 28 AF XY: 0.0000273 AC XY: 2AN XY: 73324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.970G>A (p.D324N) alteration is located in exon 8 (coding exon 8) of the CYP4A11 gene. This alteration results from a G to A substitution at nucleotide position 970, causing the aspartic acid (D) at amino acid position 324 to be replaced by an asparagine (N). 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