19-4446618-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_025241.3(UBXN6):c.802G>A(p.Ala268Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000026 in 1,612,406 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_025241.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152224Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000363 AC: 9AN: 248260Hom.: 0 AF XY: 0.0000519 AC XY: 7AN XY: 134752
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1460182Hom.: 0 Cov.: 32 AF XY: 0.0000289 AC XY: 21AN XY: 726378
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152224Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.802G>A (p.A268T) alteration is located in exon 8 (coding exon 8) of the UBXN6 gene. This alteration results from a G to A substitution at nucleotide position 802, causing the alanine (A) at amino acid position 268 to be replaced by a threonine (T). 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