2-72132272-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_019885.4(CYP26B1):c.1494C>A(p.Asn498Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000374 in 1,604,984 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_019885.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP26B1 | ENST00000001146.7 | c.1494C>A | p.Asn498Lys | missense_variant | Exon 6 of 6 | 1 | NM_019885.4 | ENSP00000001146.2 | ||
CYP26B1 | ENST00000546307.5 | c.1269C>A | p.Asn423Lys | missense_variant | Exon 5 of 5 | 1 | ENSP00000443304.1 | |||
CYP26B1 | ENST00000412253.1 | c.921C>A | p.Asn307Lys | missense_variant | Exon 5 of 5 | 1 | ENSP00000401465.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152196Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000435 AC: 1AN: 230090Hom.: 0 AF XY: 0.00000805 AC XY: 1AN XY: 124298
GnomAD4 exome AF: 0.00000275 AC: 4AN: 1452788Hom.: 0 Cov.: 32 AF XY: 0.00000139 AC XY: 1AN XY: 721714
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152196Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at