rs2297792
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 1P and 14B. PP2BP4_StrongBP6_ModerateBA1
The NM_020131.5(UBQLN4):c.1485A>G(p.Ile495Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.591 in 1,565,318 control chromosomes in the GnomAD database, including 280,130 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_020131.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UBQLN4 | NM_020131.5 | c.1485A>G | p.Ile495Met | missense_variant | 10/11 | ENST00000368309.4 | |
UBQLN4 | NM_001304342.2 | c.1425A>G | p.Ile475Met | missense_variant | 10/11 | ||
UBQLN4 | XM_024448469.2 | c.1485A>G | p.Ile495Met | missense_variant | 10/11 | ||
UBQLN4 | XM_047425666.1 | c.951A>G | p.Ile317Met | missense_variant | 10/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UBQLN4 | ENST00000368309.4 | c.1485A>G | p.Ile495Met | missense_variant | 10/11 | 1 | NM_020131.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.542 AC: 82370AN: 151898Hom.: 23377 Cov.: 33
GnomAD3 exomes AF: 0.529 AC: 100560AN: 189974Hom.: 28165 AF XY: 0.537 AC XY: 55073AN XY: 102564
GnomAD4 exome AF: 0.596 AC: 841922AN: 1413302Hom.: 256733 Cov.: 58 AF XY: 0.595 AC XY: 415849AN XY: 699304
GnomAD4 genome ? AF: 0.542 AC: 82419AN: 152016Hom.: 23397 Cov.: 33 AF XY: 0.539 AC XY: 40032AN XY: 74314
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 20, 2018 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at