4-67630474-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_018227.6(UBA6):c.2320G>A(p.Ala774Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000139 in 1,433,822 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Likely benign (★).
Frequency
Consequence
NM_018227.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBA6 | NM_018227.6 | c.2320G>A | p.Ala774Thr | missense_variant | Exon 26 of 33 | ENST00000322244.10 | NP_060697.4 | |
UBA6 | XM_017008359.3 | c.2320G>A | p.Ala774Thr | missense_variant | Exon 26 of 33 | XP_016863848.1 | ||
UBA6 | XM_047415893.1 | c.2320G>A | p.Ala774Thr | missense_variant | Exon 26 of 28 | XP_047271849.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000139 AC: 2AN: 1433822Hom.: 0 Cov.: 29 AF XY: 0.00000141 AC XY: 1AN XY: 711362
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.