2-72132323-G-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_019885.4(CYP26B1):c.1443C>A(p.His481Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000491 in 1,609,880 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019885.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP26B1 | ENST00000001146.7 | c.1443C>A | p.His481Gln | missense_variant | Exon 6 of 6 | 1 | NM_019885.4 | ENSP00000001146.2 | ||
CYP26B1 | ENST00000546307.5 | c.1218C>A | p.His406Gln | missense_variant | Exon 5 of 5 | 1 | ENSP00000443304.1 | |||
CYP26B1 | ENST00000412253.1 | c.870C>A | p.His290Gln | missense_variant | Exon 5 of 5 | 1 | ENSP00000401465.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152196Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000333 AC: 8AN: 240468Hom.: 0 AF XY: 0.0000460 AC XY: 6AN XY: 130404
GnomAD4 exome AF: 0.0000501 AC: 73AN: 1457684Hom.: 1 Cov.: 32 AF XY: 0.0000566 AC XY: 41AN XY: 724684
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152196Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74362
ClinVar
Submissions by phenotype
not provided Uncertain:1
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at