NM_207034.3:c.167_190delAGACTGTGGCTGGCCCTGGCGAGG
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 4P and 8B. PM2PM4BP6_Very_Strong
The NM_207034.3(EDN3):c.167_190delAGACTGTGGCTGGCCCTGGCGAGG(p.Glu56_Glu63del) variant causes a disruptive inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000213 in 1,613,646 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_207034.3 disruptive_inframe_deletion
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: 0.000717 AC: 109AN: 152028Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000257 AC: 64AN: 249414Hom.: 0 AF XY: 0.000192 AC XY: 26AN XY: 135122
GnomAD4 exome AF: 0.000160 AC: 234AN: 1461502Hom.: 0 AF XY: 0.000142 AC XY: 103AN XY: 727078
GnomAD4 genome AF: 0.000716 AC: 109AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.000807 AC XY: 60AN XY: 74388
ClinVar
Submissions by phenotype
not provided Benign:2
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EDN3-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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at