2-181060702-A-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_006357.4(UBE2E3):c.416A>G(p.Asn139Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000746 in 1,609,514 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006357.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151478Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000686 AC: 10AN: 1458036Hom.: 0 Cov.: 32 AF XY: 0.00000552 AC XY: 4AN XY: 725278
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151478Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73992
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.416A>G (p.N139S) alteration is located in exon 5 (coding exon 4) of the UBE2E3 gene. This alteration results from a A to G substitution at nucleotide position 416, causing the asparagine (N) at amino acid position 139 to be replaced by a serine (S). 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