NM_004447.6:c.*10_*13delTTGT
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP6_ModerateBS1
The NM_004447.6(EPS8):c.*10_*13delTTGT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000443 in 1,422,896 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_004447.6 3_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152118Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000331 AC: 7AN: 211756Hom.: 0 AF XY: 0.0000260 AC XY: 3AN XY: 115548
GnomAD4 exome AF: 0.0000354 AC: 45AN: 1270778Hom.: 0 AF XY: 0.0000281 AC XY: 18AN XY: 639746
GnomAD4 genome AF: 0.000118 AC: 18AN: 152118Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74320
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