11-45847462-C-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The ENST00000443527.6(CRY2):c.35C>A(p.Ala12Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00319 in 1,596,242 control chromosomes in the GnomAD database, including 143 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
ENST00000443527.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00710 AC: 1081AN: 152206Hom.: 47 Cov.: 33
GnomAD3 exomes AF: 0.0106 AC: 2387AN: 225630Hom.: 76 AF XY: 0.00850 AC XY: 1058AN XY: 124540
GnomAD4 exome AF: 0.00277 AC: 4000AN: 1443916Hom.: 96 Cov.: 36 AF XY: 0.00255 AC XY: 1826AN XY: 717016
GnomAD4 genome AF: 0.00714 AC: 1088AN: 152326Hom.: 47 Cov.: 33 AF XY: 0.00904 AC XY: 673AN XY: 74488
ClinVar
Submissions by phenotype
not provided Benign:2
- -
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at