rs1556199319
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6_Moderate
The NM_001079872.2(CUL4B):c.1869C>T(p.Phe623=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000937 in 1,067,518 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001079872.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CUL4B | NM_001079872.2 | c.1869C>T | p.Phe623= | synonymous_variant | 14/20 | ENST00000371322.11 | |
CUL4B | NM_003588.4 | c.1923C>T | p.Phe641= | synonymous_variant | 16/22 | ||
CUL4B | NM_001330624.2 | c.1884C>T | p.Phe628= | synonymous_variant | 15/21 | ||
CUL4B | NM_001369145.1 | c.1335C>T | p.Phe445= | synonymous_variant | 14/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CUL4B | ENST00000371322.11 | c.1869C>T | p.Phe623= | synonymous_variant | 14/20 | 1 | NM_001079872.2 |
Frequencies
GnomAD3 genomes ? Cov.: 23
GnomAD4 exome AF: 9.37e-7 AC: 1AN: 1067518Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 336330
GnomAD4 genome ? Cov.: 23
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Oct 11, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at