rs764061992
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 1P and 9B. PP2BP4_StrongBS1_SupportingBS2
The NM_003588.4(CUL4B):c.13T>G(p.Ser5Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000015 in 1,203,706 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 6 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003588.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CUL4B | NM_003588.4 | c.13T>G | p.Ser5Ala | missense_variant | 2/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CUL4B | ENST00000680673.1 | c.13T>G | p.Ser5Ala | missense_variant | 2/22 | ||||
CUL4B | ENST00000681253.1 | c.13T>G | p.Ser5Ala | missense_variant | 3/23 | ||||
CUL4B | ENST00000681652.1 | c.13T>G | p.Ser5Ala | missense_variant | 5/25 |
Frequencies
GnomAD3 genomes ? AF: 0.00000890 AC: 1AN: 112308Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 34462
GnomAD3 exomes AF: 0.0000490 AC: 9AN: 183516Hom.: 0 AF XY: 0.0000442 AC XY: 3AN XY: 67946
GnomAD4 exome AF: 0.0000156 AC: 17AN: 1091398Hom.: 0 Cov.: 27 AF XY: 0.0000168 AC XY: 6AN XY: 356968
GnomAD4 genome ? AF: 0.00000890 AC: 1AN: 112308Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 34462
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Athena Diagnostics | Apr 10, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at