1-184708329-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_025191.4(EDEM3):c.1861G>A(p.Asp621Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000993 in 1,611,344 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_025191.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152074Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000162 AC: 4AN: 247470Hom.: 0 AF XY: 0.00000748 AC XY: 1AN XY: 133678
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1459270Hom.: 0 Cov.: 29 AF XY: 0.00000827 AC XY: 6AN XY: 725868
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152074Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74272
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1861G>A (p.D621N) alteration is located in exon 17 (coding exon 17) of the EDEM3 gene. This alteration results from a G to A substitution at nucleotide position 1861, causing the aspartic acid (D) at amino acid position 621 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at