X-120526816-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PP3_StrongPP5
The NM_001079872.2(CUL4B):c.2633G>A(p.Arg878Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001079872.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CUL4B | NM_001079872.2 | c.2633G>A | p.Arg878Gln | missense_variant | Exon 20 of 20 | ENST00000371322.11 | NP_001073341.1 | |
CUL4B | NM_003588.4 | c.2687G>A | p.Arg896Gln | missense_variant | Exon 22 of 22 | NP_003579.3 | ||
CUL4B | NM_001330624.2 | c.2648G>A | p.Arg883Gln | missense_variant | Exon 21 of 21 | NP_001317553.1 | ||
CUL4B | NM_001369145.1 | c.2099G>A | p.Arg700Gln | missense_variant | Exon 20 of 20 | NP_001356074.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CUL4B | ENST00000371322.11 | c.2633G>A | p.Arg878Gln | missense_variant | Exon 20 of 20 | 1 | NM_001079872.2 | ENSP00000360373.5 | ||
CUL4B | ENST00000681206.1 | c.2747G>A | p.Arg916Gln | missense_variant | Exon 23 of 23 | ENSP00000505480.1 | ||||
CUL4B | ENST00000680673.1 | c.2687G>A | p.Arg896Gln | missense_variant | Exon 22 of 22 | ENSP00000505084.1 | ||||
CUL4B | ENST00000681253.1 | c.2687G>A | p.Arg896Gln | missense_variant | Exon 23 of 23 | ENSP00000506259.1 | ||||
CUL4B | ENST00000681652.1 | c.2687G>A | p.Arg896Gln | missense_variant | Exon 25 of 25 | ENSP00000505176.1 | ||||
CUL4B | ENST00000336592.11 | c.2648G>A | p.Arg883Gln | missense_variant | Exon 21 of 21 | 5 | ENSP00000338919.6 | |||
CUL4B | ENST00000674137.11 | c.2639G>A | p.Arg880Gln | missense_variant | Exon 20 of 20 | ENSP00000501019.6 | ||||
CUL4B | ENST00000681090.1 | c.2540G>A | p.Arg847Gln | missense_variant | Exon 20 of 20 | ENSP00000506288.1 | ||||
CUL4B | ENST00000404115.8 | c.2480G>A | p.Arg827Gln | missense_variant | Exon 19 of 19 | 1 | ENSP00000384109.4 | |||
CUL4B | ENST00000679927.1 | c.2288G>A | p.Arg763Gln | missense_variant | Exon 21 of 21 | ENSP00000505603.1 | ||||
CUL4B | ENST00000371323.3 | c.2099G>A | p.Arg700Gln | missense_variant | Exon 20 of 20 | 5 | ENSP00000360374.3 | |||
CUL4B | ENST00000679844.1 | c.1970G>A | p.Arg657Gln | missense_variant | Exon 18 of 18 | ENSP00000505239.1 | ||||
CUL4B | ENST00000680474 | c.*79G>A | 3_prime_UTR_variant | Exon 20 of 20 | ENSP00000505562.1 | |||||
CUL4B | ENST00000673919.1 | n.*2080G>A | non_coding_transcript_exon_variant | Exon 21 of 21 | ENSP00000500994.1 | |||||
CUL4B | ENST00000674073.2 | n.*189G>A | non_coding_transcript_exon_variant | Exon 18 of 18 | ENSP00000501262.2 | |||||
CUL4B | ENST00000679405.1 | n.*1842G>A | non_coding_transcript_exon_variant | Exon 22 of 22 | ENSP00000504985.1 | |||||
CUL4B | ENST00000679432.1 | n.*1842G>A | non_coding_transcript_exon_variant | Exon 22 of 22 | ENSP00000505343.1 | |||||
CUL4B | ENST00000680918.1 | n.*1549G>A | non_coding_transcript_exon_variant | Exon 18 of 18 | ENSP00000505955.1 | |||||
CUL4B | ENST00000681080.1 | n.*1842G>A | non_coding_transcript_exon_variant | Exon 20 of 20 | ENSP00000505898.1 | |||||
CUL4B | ENST00000681189.1 | n.*799G>A | non_coding_transcript_exon_variant | Exon 20 of 20 | ENSP00000505973.1 | |||||
CUL4B | ENST00000681333.1 | n.*3526G>A | non_coding_transcript_exon_variant | Exon 17 of 17 | ENSP00000505739.1 | |||||
CUL4B | ENST00000681908.1 | n.*805G>A | non_coding_transcript_exon_variant | Exon 20 of 20 | ENSP00000505777.1 | |||||
CUL4B | ENST00000673919.1 | n.*2080G>A | 3_prime_UTR_variant | Exon 21 of 21 | ENSP00000500994.1 | |||||
CUL4B | ENST00000674073.2 | n.*189G>A | 3_prime_UTR_variant | Exon 18 of 18 | ENSP00000501262.2 | |||||
CUL4B | ENST00000679405.1 | n.*1842G>A | 3_prime_UTR_variant | Exon 22 of 22 | ENSP00000504985.1 | |||||
CUL4B | ENST00000679432.1 | n.*1842G>A | 3_prime_UTR_variant | Exon 22 of 22 | ENSP00000505343.1 | |||||
CUL4B | ENST00000680918.1 | n.*1549G>A | 3_prime_UTR_variant | Exon 18 of 18 | ENSP00000505955.1 | |||||
CUL4B | ENST00000681080.1 | n.*1842G>A | 3_prime_UTR_variant | Exon 20 of 20 | ENSP00000505898.1 | |||||
CUL4B | ENST00000681189.1 | n.*799G>A | 3_prime_UTR_variant | Exon 20 of 20 | ENSP00000505973.1 | |||||
CUL4B | ENST00000681333.1 | n.*3526G>A | 3_prime_UTR_variant | Exon 17 of 17 | ENSP00000505739.1 | |||||
CUL4B | ENST00000681908.1 | n.*805G>A | 3_prime_UTR_variant | Exon 20 of 20 | ENSP00000505777.1 |
Frequencies
GnomAD3 genomes Cov.: 24
GnomAD4 exome Cov.: 26
GnomAD4 genome Cov.: 24
ClinVar
Submissions by phenotype
Pettigrew syndrome Pathogenic:1
- -
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published in association with a CUL4B-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 33726816) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at