19-4446361-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_025241.3(UBXN6):c.973A>G(p.Lys325Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000175 in 1,572,678 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts 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: 0.000171 AC: 26AN: 152106Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000233 AC: 43AN: 184160Hom.: 0 AF XY: 0.000188 AC XY: 19AN XY: 100804
GnomAD4 exome AF: 0.000176 AC: 250AN: 1420572Hom.: 1 Cov.: 32 AF XY: 0.000170 AC XY: 120AN XY: 704892
GnomAD4 genome AF: 0.000171 AC: 26AN: 152106Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.973A>G (p.K325E) alteration is located in exon 9 (coding exon 9) of the UBXN6 gene. This alteration results from a A to G substitution at nucleotide position 973, causing the lysine (K) at amino acid position 325 to be replaced by a glutamic acid (E). 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