rs786205492
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM2PM5PP2PP3_Strong
The NM_174916.3(UBR1):c.1258C>G(p.Gln420Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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. Q420K) has been classified as Likely pathogenic.
Frequency
Consequence
NM_174916.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UBR1 | NM_174916.3 | c.1258C>G | p.Gln420Glu | missense_variant | 11/47 | ENST00000290650.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UBR1 | ENST00000290650.9 | c.1258C>G | p.Gln420Glu | missense_variant | 11/47 | 1 | NM_174916.3 | P1 | |
UBR1 | ENST00000546274.6 | c.1258C>G | p.Gln420Glu | missense_variant | 11/29 | 2 | |||
UBR1 | ENST00000563239.1 | c.*203-9078C>G | intron_variant, NMD_transcript_variant | 3 | |||||
UBR1 | ENST00000569971.5 | c.*68C>G | 3_prime_UTR_variant, NMD_transcript_variant | 3/6 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 28
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at