19-4446621-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_025241.3(UBXN6):c.799C>T(p.Arg267Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000515 in 1,612,506 control chromosomes in the GnomAD database, including 1 homozygotes. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152248Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000105 AC: 26AN: 248442Hom.: 0 AF XY: 0.0000816 AC XY: 11AN XY: 134826
GnomAD4 exome AF: 0.0000507 AC: 74AN: 1460140Hom.: 1 Cov.: 32 AF XY: 0.0000509 AC XY: 37AN XY: 726366
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152366Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74508
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.799C>T (p.R267C) alteration is located in exon 8 (coding exon 8) of the UBXN6 gene. This alteration results from a C to T substitution at nucleotide position 799, causing the arginine (R) at amino acid position 267 to be replaced by a cysteine (C). 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