13-95832950-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_020121.4(UGGT2):c.4505T>C(p.Leu1502Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000113 in 1,612,580 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_020121.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152192Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000219 AC: 55AN: 250690Hom.: 0 AF XY: 0.000295 AC XY: 40AN XY: 135476
GnomAD4 exome AF: 0.000115 AC: 168AN: 1460270Hom.: 0 Cov.: 31 AF XY: 0.000149 AC XY: 108AN XY: 726392
GnomAD4 genome AF: 0.0000919 AC: 14AN: 152310Hom.: 0 Cov.: 33 AF XY: 0.0000940 AC XY: 7AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4505T>C (p.L1502P) alteration is located in exon 38 (coding exon 38) of the UGGT2 gene. This alteration results from a T to C substitution at nucleotide position 4505, causing the leucine (L) at amino acid position 1502 to be replaced by a proline (P). 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