X-120530206-ACTGT-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PVS1_ModeratePM2PP5_Moderate
The NM_001079872.2(CUL4B):c.2484_2487delACAG(p.Arg828SerfsTer12) variant causes a frameshift change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (★).
Frequency
Consequence
NM_001079872.2 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CUL4B | NM_001079872.2 | c.2484_2487delACAG | p.Arg828SerfsTer12 | frameshift_variant | Exon 19 of 20 | ENST00000371322.11 | NP_001073341.1 | |
CUL4B | NM_003588.4 | c.2538_2541delACAG | p.Arg846SerfsTer12 | frameshift_variant | Exon 21 of 22 | NP_003579.3 | ||
CUL4B | NM_001330624.2 | c.2499_2502delACAG | p.Arg833SerfsTer12 | frameshift_variant | Exon 20 of 21 | NP_001317553.1 | ||
CUL4B | NM_001369145.1 | c.1950_1953delACAG | p.Arg650SerfsTer12 | frameshift_variant | Exon 19 of 20 | NP_001356074.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CUL4B | ENST00000371322.11 | c.2484_2487delACAG | p.Arg828SerfsTer12 | frameshift_variant | Exon 19 of 20 | 1 | NM_001079872.2 | ENSP00000360373.5 | ||
CUL4B | ENST00000681206.1 | c.2598_2601delACAG | p.Arg866SerfsTer12 | frameshift_variant | Exon 22 of 23 | ENSP00000505480.1 | ||||
CUL4B | ENST00000680673.1 | c.2538_2541delACAG | p.Arg846SerfsTer12 | frameshift_variant | Exon 21 of 22 | ENSP00000505084.1 | ||||
CUL4B | ENST00000681253.1 | c.2538_2541delACAG | p.Arg846SerfsTer12 | frameshift_variant | Exon 22 of 23 | ENSP00000506259.1 | ||||
CUL4B | ENST00000681652.1 | c.2538_2541delACAG | p.Arg846SerfsTer12 | frameshift_variant | Exon 24 of 25 | ENSP00000505176.1 | ||||
CUL4B | ENST00000336592.11 | c.2499_2502delACAG | p.Arg833SerfsTer12 | frameshift_variant | Exon 20 of 21 | 5 | ENSP00000338919.6 | |||
CUL4B | ENST00000674137.11 | c.2490_2493delACAG | p.Arg830SerfsTer12 | frameshift_variant | Exon 19 of 20 | ENSP00000501019.6 | ||||
CUL4B | ENST00000681090.1 | c.2391_2394delACAG | p.Arg797SerfsTer12 | frameshift_variant | Exon 19 of 20 | ENSP00000506288.1 | ||||
CUL4B | ENST00000679927.1 | c.2139_2142delACAG | p.Arg713SerfsTer12 | frameshift_variant | Exon 20 of 21 | ENSP00000505603.1 | ||||
CUL4B | ENST00000371323.3 | c.1950_1953delACAG | p.Arg650SerfsTer12 | frameshift_variant | Exon 19 of 20 | 5 | ENSP00000360374.3 | |||
CUL4B | ENST00000680474.1 | c.1926_1929delACAG | p.Arg642fs | frameshift_variant | Exon 18 of 20 | ENSP00000505562.1 | ||||
CUL4B | ENST00000679844.1 | c.1821_1824delACAG | p.Arg607fs | frameshift_variant | Exon 17 of 18 | ENSP00000505239.1 | ||||
CUL4B | ENST00000404115.8 | c.2439+2212_2439+2215delACAG | intron_variant | Intron 18 of 18 | 1 | ENSP00000384109.4 | ||||
CUL4B | ENST00000673919.1 | n.*1931_*1934delACAG | non_coding_transcript_exon_variant | Exon 20 of 21 | ENSP00000500994.1 | |||||
CUL4B | ENST00000674073.2 | n.*40_*43delACAG | non_coding_transcript_exon_variant | Exon 17 of 18 | ENSP00000501262.2 | |||||
CUL4B | ENST00000679405.1 | n.*1693_*1696delACAG | non_coding_transcript_exon_variant | Exon 21 of 22 | ENSP00000504985.1 | |||||
CUL4B | ENST00000679432.1 | n.*1693_*1696delACAG | non_coding_transcript_exon_variant | Exon 21 of 22 | ENSP00000505343.1 | |||||
CUL4B | ENST00000680918.1 | n.*1400_*1403delACAG | non_coding_transcript_exon_variant | Exon 17 of 18 | ENSP00000505955.1 | |||||
CUL4B | ENST00000681080.1 | n.*1693_*1696delACAG | non_coding_transcript_exon_variant | Exon 19 of 20 | ENSP00000505898.1 | |||||
CUL4B | ENST00000681189.1 | n.*650_*653delACAG | non_coding_transcript_exon_variant | Exon 19 of 20 | ENSP00000505973.1 | |||||
CUL4B | ENST00000681333.1 | n.*3377_*3380delACAG | non_coding_transcript_exon_variant | Exon 16 of 17 | ENSP00000505739.1 | |||||
CUL4B | ENST00000681908.1 | n.*656_*659delACAG | non_coding_transcript_exon_variant | Exon 19 of 20 | ENSP00000505777.1 | |||||
CUL4B | ENST00000673919.1 | n.*1931_*1934delACAG | 3_prime_UTR_variant | Exon 20 of 21 | ENSP00000500994.1 | |||||
CUL4B | ENST00000674073.2 | n.*40_*43delACAG | 3_prime_UTR_variant | Exon 17 of 18 | ENSP00000501262.2 | |||||
CUL4B | ENST00000679405.1 | n.*1693_*1696delACAG | 3_prime_UTR_variant | Exon 21 of 22 | ENSP00000504985.1 | |||||
CUL4B | ENST00000679432.1 | n.*1693_*1696delACAG | 3_prime_UTR_variant | Exon 21 of 22 | ENSP00000505343.1 | |||||
CUL4B | ENST00000680918.1 | n.*1400_*1403delACAG | 3_prime_UTR_variant | Exon 17 of 18 | ENSP00000505955.1 | |||||
CUL4B | ENST00000681080.1 | n.*1693_*1696delACAG | 3_prime_UTR_variant | Exon 19 of 20 | ENSP00000505898.1 | |||||
CUL4B | ENST00000681189.1 | n.*650_*653delACAG | 3_prime_UTR_variant | Exon 19 of 20 | ENSP00000505973.1 | |||||
CUL4B | ENST00000681333.1 | n.*3377_*3380delACAG | 3_prime_UTR_variant | Exon 16 of 17 | ENSP00000505739.1 | |||||
CUL4B | ENST00000681908.1 | n.*656_*659delACAG | 3_prime_UTR_variant | Exon 19 of 20 | ENSP00000505777.1 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not provided Pathogenic:1
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29302074) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.