chr3-124737895-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000232607.7(UMPS):c.638G>T(p.Gly213Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 14/21 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. G213A) has been classified as Benign.
Frequency
Consequence
ENST00000232607.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UMPS | NM_000373.4 | c.638G>T | p.Gly213Val | missense_variant | 3/6 | ENST00000232607.7 | NP_000364.1 | |
UMPS | NR_033434.2 | n.504G>T | non_coding_transcript_exon_variant | 2/5 | ||||
UMPS | NR_033437.2 | n.757G>T | non_coding_transcript_exon_variant | 4/7 | ||||
UMPS | XR_001740253.3 | n.658G>T | non_coding_transcript_exon_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UMPS | ENST00000232607.7 | c.638G>T | p.Gly213Val | missense_variant | 3/6 | 1 | NM_000373.4 | ENSP00000232607 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.