4-67625067-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018227.6(UBA6):c.2639G>A(p.Arg880His) variant causes a missense change. The variant allele was found at a frequency of 0.000494 in 1,613,212 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018227.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UBA6 | ENST00000322244.10 | c.2639G>A | p.Arg880His | missense_variant | Exon 29 of 33 | 1 | NM_018227.6 | ENSP00000313454.4 | ||
UBA6 | ENST00000514261.1 | n.89G>A | non_coding_transcript_exon_variant | Exon 1 of 4 | 5 | ENSP00000425091.1 |
Frequencies
GnomAD3 genomes AF: 0.000270 AC: 41AN: 152006Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000207 AC: 52AN: 251130Hom.: 0 AF XY: 0.000236 AC XY: 32AN XY: 135724
GnomAD4 exome AF: 0.000517 AC: 756AN: 1461088Hom.: 0 Cov.: 31 AF XY: 0.000480 AC XY: 349AN XY: 726824
GnomAD4 genome AF: 0.000270 AC: 41AN: 152124Hom.: 1 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2639G>A (p.R880H) alteration is located in exon 29 (coding exon 29) of the UBA6 gene. This alteration results from a G to A substitution at nucleotide position 2639, causing the arginine (R) at amino acid position 880 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