NM_016021.3:c.877A>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016021.3(UBE2J1):c.877A>G(p.Ile293Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016021.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBE2J1 | NM_016021.3 | c.877A>G | p.Ile293Val | missense_variant | Exon 8 of 8 | ENST00000435041.3 | NP_057105.2 | |
UBE2J1 | XM_011535887.3 | c.757A>G | p.Ile253Val | missense_variant | Exon 7 of 7 | XP_011534189.1 | ||
UBE2J1 | XM_011535888.4 | c.*199A>G | 3_prime_UTR_variant | Exon 8 of 8 | XP_011534190.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.877A>G (p.I293V) alteration is located in exon 8 (coding exon 8) of the UBE2J1 gene. This alteration results from a A to G substitution at nucleotide position 877, causing the isoleucine (I) at amino acid position 293 to be replaced by a valine (V). 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