rs752379442
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014948.4(UBOX5):c.1606G>T(p.Val536Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,072 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_014948.4 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 |
---|---|---|---|---|---|---|---|---|
UBOX5 | NM_014948.4 | c.1606G>T | p.Val536Leu | missense_variant | Exon 5 of 5 | ENST00000217173.7 | NP_055763.1 | |
UBOX5 | NM_199415.3 | c.1444G>T | p.Val482Leu | missense_variant | Exon 4 of 4 | NP_955447.1 | ||
UBOX5 | NM_001267584.2 | c.*62G>T | 3_prime_UTR_variant | Exon 5 of 5 | NP_001254513.1 | |||
UBOX5-AS1 | NR_038395.1 | n.938-152C>A | intron_variant | Intron 2 of 6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UBOX5 | ENST00000217173.7 | c.1606G>T | p.Val536Leu | missense_variant | Exon 5 of 5 | 1 | NM_014948.4 | ENSP00000217173.2 | ||
UBOX5 | ENST00000348031.6 | c.1444G>T | p.Val482Leu | missense_variant | Exon 4 of 4 | 1 | ENSP00000311726.3 | |||
UBOX5-AS1 | ENST00000446537.5 | n.936-152C>A | intron_variant | Intron 2 of 6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460072Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726334
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.