chrX-120560261-TGAG-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP3BS2
The NM_001079872.2(CUL4B):c.375_377delCTC(p.Ser126del) variant causes a disruptive inframe deletion change. The variant allele was found at a frequency of 0.0000816 in 1,176,913 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 14 hemizygotes in GnomAD. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001079872.2 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CUL4B | NM_001079872.2 | c.375_377delCTC | p.Ser126del | disruptive_inframe_deletion | Exon 1 of 20 | ENST00000371322.11 | NP_001073341.1 | |
CUL4B | NM_003588.4 | c.429_431delCTC | p.Ser144del | disruptive_inframe_deletion | Exon 3 of 22 | NP_003579.3 | ||
CUL4B | NM_001330624.2 | c.390_392delCTC | p.Ser131del | disruptive_inframe_deletion | Exon 2 of 21 | NP_001317553.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CUL4B | ENST00000371322.11 | c.375_377delCTC | p.Ser126del | disruptive_inframe_deletion | Exon 1 of 20 | 1 | NM_001079872.2 | ENSP00000360373.5 | ||
CUL4B | ENST00000681206.1 | c.390_392delCTC | p.Ser131del | disruptive_inframe_deletion | Exon 2 of 23 | ENSP00000505480.1 | ||||
CUL4B | ENST00000680673.1 | c.429_431delCTC | p.Ser144del | disruptive_inframe_deletion | Exon 3 of 22 | ENSP00000505084.1 | ||||
CUL4B | ENST00000681253.1 | c.429_431delCTC | p.Ser144del | disruptive_inframe_deletion | Exon 4 of 23 | ENSP00000506259.1 | ||||
CUL4B | ENST00000681652.1 | c.429_431delCTC | p.Ser144del | disruptive_inframe_deletion | Exon 6 of 25 | ENSP00000505176.1 | ||||
CUL4B | ENST00000336592.11 | c.390_392delCTC | p.Ser131del | disruptive_inframe_deletion | Exon 2 of 21 | 5 | ENSP00000338919.6 | |||
CUL4B | ENST00000674137.11 | c.375_377delCTC | p.Ser126del | disruptive_inframe_deletion | Exon 1 of 20 | ENSP00000501019.6 | ||||
CUL4B | ENST00000681090.1 | c.375_377delCTC | p.Ser126del | disruptive_inframe_deletion | Exon 1 of 20 | ENSP00000506288.1 | ||||
CUL4B | ENST00000404115.8 | c.375_377delCTC | p.Ser126del | disruptive_inframe_deletion | Exon 1 of 19 | 1 | ENSP00000384109.4 | |||
CUL4B | ENST00000679927.1 | c.30_32delCTC | p.Ser11del | disruptive_inframe_deletion | Exon 2 of 21 | ENSP00000505603.1 | ||||
CUL4B | ENST00000673919.1 | n.375_377delCTC | non_coding_transcript_exon_variant | Exon 1 of 21 | ENSP00000500994.1 | |||||
CUL4B | ENST00000679432.1 | n.360_362delCTC | non_coding_transcript_exon_variant | Exon 1 of 22 | ENSP00000505343.1 | |||||
CUL4B | ENST00000681333.1 | n.375_377delCTC | non_coding_transcript_exon_variant | Exon 1 of 17 | ENSP00000505739.1 |
Frequencies
GnomAD3 genomes AF: 0.0000451 AC: 5AN: 110981Hom.: 0 Cov.: 22 AF XY: 0.0000600 AC XY: 2AN XY: 33321
GnomAD3 exomes AF: 0.0000520 AC: 9AN: 173145Hom.: 0 AF XY: 0.0000162 AC XY: 1AN XY: 61627
GnomAD4 exome AF: 0.0000854 AC: 91AN: 1065932Hom.: 0 AF XY: 0.0000345 AC XY: 12AN XY: 347582
GnomAD4 genome AF: 0.0000451 AC: 5AN: 110981Hom.: 0 Cov.: 22 AF XY: 0.0000600 AC XY: 2AN XY: 33321
ClinVar
Submissions by phenotype
X-linked intellectual disability Cabezas type Benign:1
- -
CUL4B-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at