X-120530127-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001079872.2(CUL4B):c.2567A>T(p.Tyr856Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000912 in 1,097,026 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001079872.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CUL4B | NM_001079872.2 | c.2567A>T | p.Tyr856Phe | missense_variant | Exon 19 of 20 | ENST00000371322.11 | NP_001073341.1 | |
CUL4B | NM_003588.4 | c.2621A>T | p.Tyr874Phe | missense_variant | Exon 21 of 22 | NP_003579.3 | ||
CUL4B | NM_001330624.2 | c.2582A>T | p.Tyr861Phe | missense_variant | Exon 20 of 21 | NP_001317553.1 | ||
CUL4B | NM_001369145.1 | c.2033A>T | p.Tyr678Phe | missense_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.2567A>T | p.Tyr856Phe | missense_variant | Exon 19 of 20 | 1 | NM_001079872.2 | ENSP00000360373.5 | ||
CUL4B | ENST00000681206.1 | c.2681A>T | p.Tyr894Phe | missense_variant | Exon 22 of 23 | ENSP00000505480.1 | ||||
CUL4B | ENST00000680673.1 | c.2621A>T | p.Tyr874Phe | missense_variant | Exon 21 of 22 | ENSP00000505084.1 | ||||
CUL4B | ENST00000681253.1 | c.2621A>T | p.Tyr874Phe | missense_variant | Exon 22 of 23 | ENSP00000506259.1 | ||||
CUL4B | ENST00000681652.1 | c.2621A>T | p.Tyr874Phe | missense_variant | Exon 24 of 25 | ENSP00000505176.1 | ||||
CUL4B | ENST00000336592.11 | c.2582A>T | p.Tyr861Phe | missense_variant | Exon 20 of 21 | 5 | ENSP00000338919.6 | |||
CUL4B | ENST00000674137.11 | c.2573A>T | p.Tyr858Phe | missense_variant | Exon 19 of 20 | ENSP00000501019.6 | ||||
CUL4B | ENST00000681090.1 | c.2474A>T | p.Tyr825Phe | missense_variant | Exon 19 of 20 | ENSP00000506288.1 | ||||
CUL4B | ENST00000679927.1 | c.2222A>T | p.Tyr741Phe | missense_variant | Exon 20 of 21 | ENSP00000505603.1 | ||||
CUL4B | ENST00000371323.3 | c.2033A>T | p.Tyr678Phe | missense_variant | Exon 19 of 20 | 5 | ENSP00000360374.3 | |||
CUL4B | ENST00000680474.1 | c.2009A>T | p.Tyr670Phe | missense_variant | Exon 18 of 20 | ENSP00000505562.1 | ||||
CUL4B | ENST00000679844.1 | c.1904A>T | p.Tyr635Phe | missense_variant | Exon 17 of 18 | ENSP00000505239.1 | ||||
CUL4B | ENST00000404115.8 | c.2439+2295A>T | intron_variant | Intron 18 of 18 | 1 | ENSP00000384109.4 | ||||
CUL4B | ENST00000673919.1 | n.*2014A>T | non_coding_transcript_exon_variant | Exon 20 of 21 | ENSP00000500994.1 | |||||
CUL4B | ENST00000674073.2 | n.*123A>T | non_coding_transcript_exon_variant | Exon 17 of 18 | ENSP00000501262.2 | |||||
CUL4B | ENST00000679405.1 | n.*1776A>T | non_coding_transcript_exon_variant | Exon 21 of 22 | ENSP00000504985.1 | |||||
CUL4B | ENST00000679432.1 | n.*1776A>T | non_coding_transcript_exon_variant | Exon 21 of 22 | ENSP00000505343.1 | |||||
CUL4B | ENST00000680918.1 | n.*1483A>T | non_coding_transcript_exon_variant | Exon 17 of 18 | ENSP00000505955.1 | |||||
CUL4B | ENST00000681080.1 | n.*1776A>T | non_coding_transcript_exon_variant | Exon 19 of 20 | ENSP00000505898.1 | |||||
CUL4B | ENST00000681189.1 | n.*733A>T | non_coding_transcript_exon_variant | Exon 19 of 20 | ENSP00000505973.1 | |||||
CUL4B | ENST00000681333.1 | n.*3460A>T | non_coding_transcript_exon_variant | Exon 16 of 17 | ENSP00000505739.1 | |||||
CUL4B | ENST00000681908.1 | n.*739A>T | non_coding_transcript_exon_variant | Exon 19 of 20 | ENSP00000505777.1 | |||||
CUL4B | ENST00000673919.1 | n.*2014A>T | 3_prime_UTR_variant | Exon 20 of 21 | ENSP00000500994.1 | |||||
CUL4B | ENST00000674073.2 | n.*123A>T | 3_prime_UTR_variant | Exon 17 of 18 | ENSP00000501262.2 | |||||
CUL4B | ENST00000679405.1 | n.*1776A>T | 3_prime_UTR_variant | Exon 21 of 22 | ENSP00000504985.1 | |||||
CUL4B | ENST00000679432.1 | n.*1776A>T | 3_prime_UTR_variant | Exon 21 of 22 | ENSP00000505343.1 | |||||
CUL4B | ENST00000680918.1 | n.*1483A>T | 3_prime_UTR_variant | Exon 17 of 18 | ENSP00000505955.1 | |||||
CUL4B | ENST00000681080.1 | n.*1776A>T | 3_prime_UTR_variant | Exon 19 of 20 | ENSP00000505898.1 | |||||
CUL4B | ENST00000681189.1 | n.*733A>T | 3_prime_UTR_variant | Exon 19 of 20 | ENSP00000505973.1 | |||||
CUL4B | ENST00000681333.1 | n.*3460A>T | 3_prime_UTR_variant | Exon 16 of 17 | ENSP00000505739.1 | |||||
CUL4B | ENST00000681908.1 | n.*739A>T | 3_prime_UTR_variant | Exon 19 of 20 | ENSP00000505777.1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome AF: 9.12e-7 AC: 1AN: 1097026Hom.: 0 Cov.: 29 AF XY: 0.00000276 AC XY: 1AN XY: 362606
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.