rs2890565
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_006786.4(UTS2):c.221G>C(p.Ser74Thr) 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. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S74G) has been classified as Uncertain significance.
Frequency
Consequence
NM_006786.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UTS2 | NM_006786.4 | c.221G>C | p.Ser74Thr | missense_variant | 3/4 | ENST00000361696.10 | |
UTS2 | NM_021995.2 | c.266G>C | p.Ser89Thr | missense_variant | 4/5 | ||
UTS2 | XM_011540537.3 | c.266G>C | p.Ser89Thr | missense_variant | 5/6 | ||
UTS2 | XM_011540538.2 | c.221G>C | p.Ser74Thr | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UTS2 | ENST00000361696.10 | c.221G>C | p.Ser74Thr | missense_variant | 3/4 | 1 | NM_006786.4 | P2 | |
UTS2 | ENST00000054668.5 | c.266G>C | p.Ser89Thr | missense_variant | 4/5 | 1 | A2 | ||
UTS2 | ENST00000377516.6 | c.221G>C | p.Ser74Thr | missense_variant | 4/7 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at