rs1555448026
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_174916.3(UBR1):āc.1370A>Gā(p.Asn457Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,826 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_174916.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBR1 | NM_174916.3 | c.1370A>G | p.Asn457Ser | missense_variant | 12/47 | ENST00000290650.9 | NP_777576.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UBR1 | ENST00000290650.9 | c.1370A>G | p.Asn457Ser | missense_variant | 12/47 | 1 | NM_174916.3 | ENSP00000290650.4 | ||
UBR1 | ENST00000546274.6 | c.1370A>G | p.Asn457Ser | missense_variant | 12/29 | 2 | ENSP00000477932.1 | |||
UBR1 | ENST00000563239.1 | n.*203-7522A>G | intron_variant | 3 | ENSP00000456502.1 | |||||
UBR1 | ENST00000569971.5 | n.*91+1533A>G | intron_variant | 4 | ENSP00000455759.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461826Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727218
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Apr 08, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at