X-154485591-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_014235.5(UBL4A):c.422G>A(p.Arg141His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000182 in 1,209,026 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 6 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014235.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000899 AC: 1AN: 111255Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33445
GnomAD3 exomes AF: 0.0000275 AC: 5AN: 182051Hom.: 0 AF XY: 0.0000299 AC XY: 2AN XY: 66977
GnomAD4 exome AF: 0.0000191 AC: 21AN: 1097771Hom.: 0 Cov.: 33 AF XY: 0.0000165 AC XY: 6AN XY: 363289
GnomAD4 genome AF: 0.00000899 AC: 1AN: 111255Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33445
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.422G>A (p.R141H) alteration is located in exon 4 (coding exon 4) of the UBL4A gene. This alteration results from a G to A substitution at nucleotide position 422, causing the arginine (R) at amino acid position 141 to be replaced by a histidine (H). 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