chr10-93075818-A-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_000783.4(CYP26A1):c.865-8A>G variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00594 in 1,609,298 control chromosomes in the GnomAD database, including 35 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000783.4 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00386 AC: 587AN: 152106Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.00386 AC: 971AN: 251376Hom.: 4 AF XY: 0.00394 AC XY: 535AN XY: 135876
GnomAD4 exome AF: 0.00616 AC: 8976AN: 1457074Hom.: 33 Cov.: 28 AF XY: 0.00596 AC XY: 4321AN XY: 725260
GnomAD4 genome AF: 0.00385 AC: 586AN: 152224Hom.: 2 Cov.: 33 AF XY: 0.00339 AC XY: 252AN XY: 74436
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2023 | CYP26A1: BP4, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at