rs941707024
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032830.3(UTP4):c.345A>C(p.Gln115His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. Q115Q) has been classified as Likely benign.
Frequency
Consequence
NM_032830.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UTP4 | NM_032830.3 | c.345A>C | p.Gln115His | missense_variant | Exon 3 of 17 | ENST00000314423.12 | NP_116219.2 | |
UTP4 | NM_001318391.2 | c.96A>C | p.Gln32His | missense_variant | Exon 3 of 17 | NP_001305320.1 | ||
UTP4 | XM_047434817.1 | c.345A>C | p.Gln115His | missense_variant | Exon 3 of 10 | XP_047290773.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at