rs3093103
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001082.5(CYP4F2):c.-1-12T>C variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.158 in 1,611,402 control chromosomes in the GnomAD database, including 21,117 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001082.5 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP4F2 | NM_001082.5 | c.-1-12T>C | splice_polypyrimidine_tract_variant, intron_variant | ENST00000221700.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP4F2 | ENST00000221700.11 | c.-1-12T>C | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001082.5 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.151 AC: 22877AN: 151884Hom.: 1831 Cov.: 31
GnomAD3 exomes AF: 0.145 AC: 36149AN: 248510Hom.: 2976 AF XY: 0.150 AC XY: 20171AN XY: 134508
GnomAD4 exome AF: 0.159 AC: 232369AN: 1459400Hom.: 19285 Cov.: 33 AF XY: 0.160 AC XY: 116134AN XY: 726034
GnomAD4 genome ? AF: 0.151 AC: 22895AN: 152002Hom.: 1832 Cov.: 31 AF XY: 0.149 AC XY: 11099AN XY: 74292
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at