NM_015901.6:c.484T>G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_015901.6(NUDT13):c.484T>G(p.Trp162Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000809 in 1,458,510 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015901.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000807 AC: 2AN: 247822Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134272
GnomAD4 exome AF: 0.0000809 AC: 118AN: 1458510Hom.: 0 Cov.: 31 AF XY: 0.0000675 AC XY: 49AN XY: 725908
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.484T>G (p.W162G) alteration is located in exon 6 (coding exon 5) of the NUDT13 gene. This alteration results from a T to G substitution at nucleotide position 484, causing the tryptophan (W) at amino acid position 162 to be replaced by a glycine (G). 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