10-133230761-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003577.3(UTF1):c.473G>T(p.Arg158Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000144 in 1,384,220 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003577.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UTF1 | NM_003577.3 | c.473G>T | p.Arg158Leu | missense_variant | 1/2 | ENST00000304477.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UTF1 | ENST00000304477.3 | c.473G>T | p.Arg158Leu | missense_variant | 1/2 | 1 | NM_003577.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000662 AC: 1AN: 151090Hom.: 0 Cov.: 33
GnomAD4 exome AF: 8.11e-7 AC: 1AN: 1233130Hom.: 0 Cov.: 35 AF XY: 0.00000165 AC XY: 1AN XY: 605184
GnomAD4 genome AF: 0.00000662 AC: 1AN: 151090Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 73810
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 22, 2023 | The c.473G>T (p.R158L) alteration is located in exon 1 (coding exon 1) of the UTF1 gene. This alteration results from a G to T substitution at nucleotide position 473, causing the arginine (R) at amino acid position 158 to be replaced by a leucine (L). 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