1-229635097-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014777.4(URB2):c.484G>A(p.Glu162Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000595 in 1,613,978 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014777.4 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 | UniProt |
---|---|---|---|---|---|---|---|
URB2 | NM_014777.4 | c.484G>A | p.Glu162Lys | missense_variant | 4/10 | ENST00000258243.7 | |
URB2 | NM_001314021.2 | c.484G>A | p.Glu162Lys | missense_variant | 4/10 | ||
URB2 | XM_005273360.3 | c.484G>A | p.Glu162Lys | missense_variant | 4/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
URB2 | ENST00000258243.7 | c.484G>A | p.Glu162Lys | missense_variant | 4/10 | 1 | NM_014777.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152248Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000995 AC: 25AN: 251250Hom.: 1 AF XY: 0.000103 AC XY: 14AN XY: 135818
GnomAD4 exome AF: 0.0000588 AC: 86AN: 1461730Hom.: 1 Cov.: 31 AF XY: 0.0000550 AC XY: 40AN XY: 727152
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152248Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74384
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at