12-15681305-GTAATAATAATAATAA-GTAATAATAATAATAATAATAATAATAATAA
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP6_ModerateBS1
The NM_004447.6(EPS8):c.60-18_60-4dupTTATTATTATTATTA variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000135 in 1,083,850 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_004447.6 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000810 AC: 119AN: 146962Hom.: 0 Cov.: 27
GnomAD4 exome AF: 0.0000267 AC: 25AN: 936860Hom.: 0 Cov.: 11 AF XY: 0.0000318 AC XY: 15AN XY: 471864
GnomAD4 genome AF: 0.000823 AC: 121AN: 146990Hom.: 0 Cov.: 27 AF XY: 0.000811 AC XY: 58AN XY: 71502
ClinVar
Submissions by phenotype
EPS8-related disorder 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). -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at