rs144906308
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_183374.3(CYP26C1):c.82C>A(p.Leu28Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L28L) has been classified as Likely benign.
Frequency
Consequence
NM_183374.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP26C1 | ENST00000651965.1 | c.82C>A | p.Leu28Met | missense_variant | Exon 1 of 6 | NM_183374.3 | ENSP00000498424.1 | |||
CYP26C1 | ENST00000624358.3 | n.82C>A | non_coding_transcript_exon_variant | Exon 1 of 6 | 2 | ENSP00000485098.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1435576Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 711586
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at