10-93074983-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000783.4(CYP26A1):āc.619G>Cā(p.Glu207Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,782 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_000783.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248736Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135082
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460782Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 726728
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.619G>C (p.E207Q) alteration is located in exon 3 (coding exon 3) of the CYP26A1 gene. This alteration results from a G to C substitution at nucleotide position 619, causing the glutamic acid (E) at amino acid position 207 to be replaced by a glutamine (Q). 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