10-93074995-G-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_000783.4(CYP26A1):c.631G>T(p.Val211Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00346 in 1,613,100 control chromosomes in the GnomAD database, including 19 homozygotes. 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 Likely benign (no stars).
Frequency
Consequence
NM_000783.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00302 AC: 459AN: 152236Hom.: 4 Cov.: 33
GnomAD3 exomes AF: 0.00244 AC: 606AN: 248640Hom.: 3 AF XY: 0.00248 AC XY: 335AN XY: 135008
GnomAD4 exome AF: 0.00351 AC: 5121AN: 1460746Hom.: 15 Cov.: 33 AF XY: 0.00336 AC XY: 2440AN XY: 726704
GnomAD4 genome AF: 0.00301 AC: 459AN: 152354Hom.: 4 Cov.: 33 AF XY: 0.00295 AC XY: 220AN XY: 74500
ClinVar
Submissions by phenotype
CYP26A1-related condition Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at