rs982155788
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003334.4(UBA1):c.34G>A(p.Val12Met) variant causes a missense change. The variant allele was found at a frequency of 0.00000273 in 1,098,242 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 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_003334.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBA1 | NM_003334.4 | c.34G>A | p.Val12Met | missense_variant | Exon 2 of 26 | ENST00000335972.11 | NP_003325.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 24
GnomAD4 exome AF: 0.00000273 AC: 3AN: 1098242Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 1AN XY: 363596
GnomAD4 genome Cov.: 24
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.34G>A (p.V12M) alteration is located in exon 2 (coding exon 1) of the UBA1 gene. This alteration results from a G to A substitution at nucleotide position 34, causing the valine (V) at amino acid position 12 to be replaced by a methionine (M). 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