chr12-101285874-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014503.3(UTP20):c.319C>G(p.Leu107Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000936 in 1,613,302 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014503.3 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: 0.000572 AC: 87AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000148 AC: 37AN: 250130Hom.: 0 AF XY: 0.0000961 AC XY: 13AN XY: 135282
GnomAD4 exome AF: 0.0000438 AC: 64AN: 1461006Hom.: 0 Cov.: 32 AF XY: 0.0000427 AC XY: 31AN XY: 726794
GnomAD4 genome AF: 0.000571 AC: 87AN: 152296Hom.: 0 Cov.: 32 AF XY: 0.000550 AC XY: 41AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.319C>G (p.L107V) alteration is located in exon 4 (coding exon 4) of the UTP20 gene. This alteration results from a C to G substitution at nucleotide position 319, causing the leucine (L) at amino acid position 107 to be replaced by a valine (V). 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