rs1556196865
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The ENST00000371322.11(CUL4B):c.2041C>A(p.Pro681Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P681L) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000371322.11 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CUL4B | NM_001079872.2 | c.2041C>A | p.Pro681Thr | missense_variant | 15/20 | ENST00000371322.11 | NP_001073341.1 | |
CUL4B | NM_003588.4 | c.2095C>A | p.Pro699Thr | missense_variant | 17/22 | NP_003579.3 | ||
CUL4B | NM_001330624.2 | c.2056C>A | p.Pro686Thr | missense_variant | 16/21 | NP_001317553.1 | ||
CUL4B | NM_001369145.1 | c.1507C>A | p.Pro503Thr | missense_variant | 15/20 | NP_001356074.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CUL4B | ENST00000371322.11 | c.2041C>A | p.Pro681Thr | missense_variant | 15/20 | 1 | NM_001079872.2 | ENSP00000360373 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 9.44e-7 AC: 1AN: 1059427Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 331995
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 18, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at