chrX-120526771-T-TA
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_001079872.2(CUL4B):c.2677dupT(p.Tyr893LeufsTer17) 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 Uncertain significance (★).
Frequency
Consequence
NM_001079872.2 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CUL4B | NM_001079872.2 | c.2677dupT | p.Tyr893LeufsTer17 | frameshift_variant | Exon 20 of 20 | ENST00000371322.11 | NP_001073341.1 | |
CUL4B | NM_003588.4 | c.2731dupT | p.Tyr911LeufsTer17 | frameshift_variant | Exon 22 of 22 | NP_003579.3 | ||
CUL4B | NM_001330624.2 | c.2692dupT | p.Tyr898LeufsTer17 | frameshift_variant | Exon 21 of 21 | NP_001317553.1 | ||
CUL4B | NM_001369145.1 | c.2143dupT | p.Tyr715LeufsTer17 | frameshift_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.2677dupT | p.Tyr893LeufsTer17 | frameshift_variant | Exon 20 of 20 | 1 | NM_001079872.2 | ENSP00000360373.5 | ||
CUL4B | ENST00000681206.1 | c.2791dupT | p.Tyr931LeufsTer17 | frameshift_variant | Exon 23 of 23 | ENSP00000505480.1 | ||||
CUL4B | ENST00000680673.1 | c.2731dupT | p.Tyr911LeufsTer17 | frameshift_variant | Exon 22 of 22 | ENSP00000505084.1 | ||||
CUL4B | ENST00000681253.1 | c.2731dupT | p.Tyr911LeufsTer17 | frameshift_variant | Exon 23 of 23 | ENSP00000506259.1 | ||||
CUL4B | ENST00000681652.1 | c.2731dupT | p.Tyr911LeufsTer17 | frameshift_variant | Exon 25 of 25 | ENSP00000505176.1 | ||||
CUL4B | ENST00000336592.11 | c.2692dupT | p.Tyr898LeufsTer17 | frameshift_variant | Exon 21 of 21 | 5 | ENSP00000338919.6 | |||
CUL4B | ENST00000674137.11 | c.2683dupT | p.Tyr895LeufsTer17 | frameshift_variant | Exon 20 of 20 | ENSP00000501019.6 | ||||
CUL4B | ENST00000681090.1 | c.2584dupT | p.Tyr862LeufsTer17 | frameshift_variant | Exon 20 of 20 | ENSP00000506288.1 | ||||
CUL4B | ENST00000404115.8 | c.2524dupT | p.Tyr842LeufsTer17 | frameshift_variant | Exon 19 of 19 | 1 | ENSP00000384109.4 | |||
CUL4B | ENST00000679927.1 | c.2332dupT | p.Tyr778LeufsTer17 | frameshift_variant | Exon 21 of 21 | ENSP00000505603.1 | ||||
CUL4B | ENST00000371323.3 | c.2143dupT | p.Tyr715LeufsTer17 | frameshift_variant | Exon 20 of 20 | 5 | ENSP00000360374.3 | |||
CUL4B | ENST00000679844.1 | c.2014dupT | p.Tyr672fs | frameshift_variant | Exon 18 of 18 | ENSP00000505239.1 | ||||
CUL4B | ENST00000680474 | c.*123dupT | 3_prime_UTR_variant | Exon 20 of 20 | ENSP00000505562.1 | |||||
CUL4B | ENST00000673919.1 | n.*2124dupT | non_coding_transcript_exon_variant | Exon 21 of 21 | ENSP00000500994.1 | |||||
CUL4B | ENST00000674073.2 | n.*233dupT | non_coding_transcript_exon_variant | Exon 18 of 18 | ENSP00000501262.2 | |||||
CUL4B | ENST00000679405.1 | n.*1886dupT | non_coding_transcript_exon_variant | Exon 22 of 22 | ENSP00000504985.1 | |||||
CUL4B | ENST00000679432.1 | n.*1886dupT | non_coding_transcript_exon_variant | Exon 22 of 22 | ENSP00000505343.1 | |||||
CUL4B | ENST00000680918.1 | n.*1593dupT | non_coding_transcript_exon_variant | Exon 18 of 18 | ENSP00000505955.1 | |||||
CUL4B | ENST00000681080.1 | n.*1886dupT | non_coding_transcript_exon_variant | Exon 20 of 20 | ENSP00000505898.1 | |||||
CUL4B | ENST00000681189.1 | n.*843dupT | non_coding_transcript_exon_variant | Exon 20 of 20 | ENSP00000505973.1 | |||||
CUL4B | ENST00000681333.1 | n.*3570dupT | non_coding_transcript_exon_variant | Exon 17 of 17 | ENSP00000505739.1 | |||||
CUL4B | ENST00000681908.1 | n.*849dupT | non_coding_transcript_exon_variant | Exon 20 of 20 | ENSP00000505777.1 | |||||
CUL4B | ENST00000673919.1 | n.*2124dupT | 3_prime_UTR_variant | Exon 21 of 21 | ENSP00000500994.1 | |||||
CUL4B | ENST00000674073.2 | n.*233dupT | 3_prime_UTR_variant | Exon 18 of 18 | ENSP00000501262.2 | |||||
CUL4B | ENST00000679405.1 | n.*1886dupT | 3_prime_UTR_variant | Exon 22 of 22 | ENSP00000504985.1 | |||||
CUL4B | ENST00000679432.1 | n.*1886dupT | 3_prime_UTR_variant | Exon 22 of 22 | ENSP00000505343.1 | |||||
CUL4B | ENST00000680918.1 | n.*1593dupT | 3_prime_UTR_variant | Exon 18 of 18 | ENSP00000505955.1 | |||||
CUL4B | ENST00000681080.1 | n.*1886dupT | 3_prime_UTR_variant | Exon 20 of 20 | ENSP00000505898.1 | |||||
CUL4B | ENST00000681189.1 | n.*843dupT | 3_prime_UTR_variant | Exon 20 of 20 | ENSP00000505973.1 | |||||
CUL4B | ENST00000681333.1 | n.*3570dupT | 3_prime_UTR_variant | Exon 17 of 17 | ENSP00000505739.1 | |||||
CUL4B | ENST00000681908.1 | n.*849dupT | 3_prime_UTR_variant | Exon 20 of 20 | ENSP00000505777.1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Cov.: 23
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
X-linked intellectual disability Cabezas type Uncertain:1
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with clinical features of Cabezas type X-linked syndromic intellectual disability (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the CUL4B gene (p.Tyr911Leufs*17). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acid(s) of the CUL4B protein and extend the protein by 13 additional amino acid residues. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.