chr2-72132275-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_019885.4(CYP26B1):āc.1491G>Cā(p.Gln497His) variant causes a missense change. The variant allele was found at a frequency of 0.0000156 in 1,605,480 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_019885.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP26B1 | ENST00000001146.7 | c.1491G>C | p.Gln497His | missense_variant | Exon 6 of 6 | 1 | NM_019885.4 | ENSP00000001146.2 | ||
CYP26B1 | ENST00000546307.5 | c.1266G>C | p.Gln422His | missense_variant | Exon 5 of 5 | 1 | ENSP00000443304.1 | |||
CYP26B1 | ENST00000412253.1 | c.918G>C | p.Gln306His | missense_variant | Exon 5 of 5 | 1 | ENSP00000401465.1 |
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152190Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000346 AC: 8AN: 231132Hom.: 0 AF XY: 0.0000400 AC XY: 5AN XY: 124892
GnomAD4 exome AF: 0.00000413 AC: 6AN: 1453172Hom.: 0 Cov.: 32 AF XY: 0.00000139 AC XY: 1AN XY: 721930
GnomAD4 genome AF: 0.000125 AC: 19AN: 152308Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74470
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1491G>C (p.Q497H) alteration is located in exon 6 (coding exon 6) of the CYP26B1 gene. This alteration results from a G to C substitution at nucleotide position 1491, causing the glutamine (Q) at amino acid position 497 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at