rs2074900
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_001082.5(CYP4F2):c.1029C>T(p.His343His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.302 in 1,613,564 control chromosomes in the GnomAD database, including 75,671 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001082.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.268 AC: 40703AN: 151844Hom.: 5769 Cov.: 30
GnomAD3 exomes AF: 0.283 AC: 70998AN: 251290Hom.: 10276 AF XY: 0.284 AC XY: 38572AN XY: 135804
GnomAD4 exome AF: 0.306 AC: 446849AN: 1461602Hom.: 69906 Cov.: 40 AF XY: 0.304 AC XY: 221366AN XY: 727096
GnomAD4 genome AF: 0.268 AC: 40693AN: 151962Hom.: 5765 Cov.: 30 AF XY: 0.265 AC XY: 19659AN XY: 74262
ClinVar
Submissions by phenotype
CYP4F2-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at