ENST00000680673.1:c.13T>G
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBS1_SupportingBS2
The ENST00000680673.1(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. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. S5S) has been classified as Likely benign.
Frequency
Consequence
ENST00000680673.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CUL4B | ENST00000680673.1 | c.13T>G | p.Ser5Ala | missense_variant | Exon 2 of 22 | ENSP00000505084.1 | ||||
CUL4B | ENST00000681253.1 | c.13T>G | p.Ser5Ala | missense_variant | Exon 3 of 23 | ENSP00000506259.1 | ||||
CUL4B | ENST00000681652.1 | c.13T>G | p.Ser5Ala | missense_variant | Exon 5 of 25 | ENSP00000505176.1 |
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
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at