rs5370
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001955.5(EDN1):c.594G>T(p.Lys198Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.226 in 1,613,552 control chromosomes in the GnomAD database, including 43,252 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001955.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.212 AC: 32244AN: 151840Hom.: 3523 Cov.: 32
GnomAD3 exomes AF: 0.229 AC: 57654AN: 251452Hom.: 7480 AF XY: 0.239 AC XY: 32545AN XY: 135898
GnomAD4 exome AF: 0.227 AC: 331748AN: 1461594Hom.: 39731 Cov.: 33 AF XY: 0.232 AC XY: 168849AN XY: 727110
GnomAD4 genome AF: 0.212 AC: 32242AN: 151958Hom.: 3521 Cov.: 32 AF XY: 0.214 AC XY: 15904AN XY: 74260
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 13, 2018 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 28, 2025 | - - |
Auriculocondylar syndrome 3 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Jul 30, 2021 | - - |
High density lipoprotein cholesterol level quantitative trait locus 7 Benign:1
Benign, no assertion criteria provided | literature only | OMIM | Apr 01, 2008 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at