2-169827691-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_172070.4(UBR3):c.184G>A(p.Glu62Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000826 in 1,210,702 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_172070.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBR3 | NM_172070.4 | c.184G>A | p.Glu62Lys | missense_variant | Exon 1 of 39 | ENST00000272793.11 | NP_742067.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000133 AC: 2AN: 150598Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000755 AC: 8AN: 1060104Hom.: 0 Cov.: 29 AF XY: 0.00000993 AC XY: 5AN XY: 503620
GnomAD4 genome AF: 0.0000133 AC: 2AN: 150598Hom.: 0 Cov.: 33 AF XY: 0.0000272 AC XY: 2AN XY: 73500
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.184G>A (p.E62K) alteration is located in exon 1 (coding exon 1) of the UBR3 gene. This alteration results from a G to A substitution at nucleotide position 184, causing the glutamic acid (E) at amino acid position 62 to be replaced by a lysine (K). 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