chr6-12293945-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_001955.5(EDN1):c.238G>A(p.Val80Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000505 in 1,614,124 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001955.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EDN1 | NM_001955.5 | c.238G>A | p.Val80Ile | missense_variant | 3/5 | ENST00000379375.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EDN1 | ENST00000379375.6 | c.238G>A | p.Val80Ile | missense_variant | 3/5 | 1 | NM_001955.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000499 AC: 76AN: 152158Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000713 AC: 179AN: 251202Hom.: 1 AF XY: 0.000618 AC XY: 84AN XY: 135836
GnomAD4 exome AF: 0.000506 AC: 739AN: 1461848Hom.: 1 Cov.: 32 AF XY: 0.000479 AC XY: 348AN XY: 727222
GnomAD4 genome ? AF: 0.000499 AC: 76AN: 152276Hom.: 0 Cov.: 33 AF XY: 0.000645 AC XY: 48AN XY: 74448
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Sep 10, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at