rs191864898
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The variant allele was found at a frequency of 0.00634 in 113,430 control chromosomes in the GnomAD database, including 7 homozygotes. There are 214 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
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Frequencies
GnomAD3 genomes AF: 0.00634 AC: 718AN: 113248Hom.: 7 Cov.: 24 AF XY: 0.00602 AC XY: 213AN XY: 35386
GnomAD4 exome AF: 0.00752 AC: 1AN: 133Hom.: 0 AF XY: 0.0133 AC XY: 1AN XY: 75
GnomAD4 genome AF: 0.00634 AC: 718AN: 113297Hom.: 7 Cov.: 24 AF XY: 0.00601 AC XY: 213AN XY: 35445
ClinVar
Submissions by phenotype
not specified Benign:2
Benign variation, found in normal male controls -
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not provided Benign:2
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CDKL5 disorder Benign:1
This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD v3 is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 3.0 (BA1). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at