1-184702981-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_025191.4(EDEM3):c.2219G>A(p.Ser740Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000187 in 1,604,864 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152108Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000414 AC: 1AN: 241750Hom.: 0 AF XY: 0.00000764 AC XY: 1AN XY: 130850
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1452756Hom.: 0 Cov.: 31 AF XY: 0.00000277 AC XY: 2AN XY: 722642
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152108Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74294
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.2219G>A (p.S740N) alteration is located in exon 19 (coding exon 19) of the EDEM3 gene. This alteration results from a G to A substitution at nucleotide position 2219, causing the serine (S) at amino acid position 740 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