rs3899049
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000778.4(CYP4A11):c.1057A>T(p.Ser353Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,660 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S353G) has been classified as Likely benign.
Frequency
Consequence
NM_000778.4 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP4A11 | NM_000778.4 | c.1057A>T | p.Ser353Cys | missense_variant | 8/12 | ENST00000310638.9 | NP_000769.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP4A11 | ENST00000310638.9 | c.1057A>T | p.Ser353Cys | missense_variant | 8/12 | 1 | NM_000778.4 | ENSP00000311095.4 | ||
CYP4A11 | ENST00000465874.5 | n.609-202A>T | intron_variant | 2 | ENSP00000476368.1 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461660Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727140
GnomAD4 genome Cov.: 29
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at