8-58446036-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001077619.2(UBXN2B):c.801T>A(p.Ser267Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000726 in 1,612,208 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001077619.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBXN2B | NM_001077619.2 | c.801T>A | p.Ser267Arg | missense_variant | Exon 7 of 8 | ENST00000399598.7 | NP_001071087.1 | |
UBXN2B | NM_001363181.1 | c.663T>A | p.Ser221Arg | missense_variant | Exon 6 of 7 | NP_001350110.1 | ||
UBXN2B | NR_156456.1 | n.917T>A | non_coding_transcript_exon_variant | Exon 8 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152068Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000484 AC: 12AN: 247942Hom.: 0 AF XY: 0.0000520 AC XY: 7AN XY: 134590
GnomAD4 exome AF: 0.0000774 AC: 113AN: 1460140Hom.: 0 Cov.: 31 AF XY: 0.0000867 AC XY: 63AN XY: 726392
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152068Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74276
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.801T>A (p.S267R) alteration is located in exon 7 (coding exon 7) of the UBXN2B gene. This alteration results from a T to A substitution at nucleotide position 801, causing the serine (S) at amino acid position 267 to be replaced by an arginine (R). 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