5-73570668-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_032175.4(UTP15):c.630G>C(p.Glu210Asp) variant causes a missense change. The variant allele was found at a frequency of 0.0000041 in 1,461,860 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_032175.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UTP15 | NM_032175.4 | c.630G>C | p.Glu210Asp | missense_variant | Exon 6 of 13 | ENST00000296792.9 | NP_115551.2 | |
UTP15 | NM_001284430.1 | c.573G>C | p.Glu191Asp | missense_variant | Exon 6 of 13 | NP_001271359.1 | ||
UTP15 | NM_001284431.1 | c.60G>C | p.Glu20Asp | missense_variant | Exon 5 of 12 | NP_001271360.1 | ||
UTP15 | XM_011543680.3 | c.630G>C | p.Glu210Asp | missense_variant | Exon 6 of 13 | XP_011541982.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UTP15 | ENST00000296792.9 | c.630G>C | p.Glu210Asp | missense_variant | Exon 6 of 13 | 1 | NM_032175.4 | ENSP00000296792.4 | ||
UTP15 | ENST00000509005.5 | c.708G>C | p.Glu236Asp | missense_variant | Exon 5 of 12 | 2 | ENSP00000421669.1 | |||
UTP15 | ENST00000508491.1 | c.573G>C | p.Glu191Asp | missense_variant | Exon 6 of 13 | 2 | ENSP00000424609.1 | |||
UTP15 | ENST00000543251.5 | c.60G>C | p.Glu20Asp | missense_variant | Exon 5 of 12 | 2 | ENSP00000440796.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461860Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727230
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.630G>C (p.E210D) alteration is located in exon 6 (coding exon 5) of the UTP15 gene. This alteration results from a G to C substitution at nucleotide position 630, causing the glutamic acid (E) at amino acid position 210 to be replaced by an aspartic acid (D). 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
Publications
No publications associated with this variant yet.