| Gene | CUL4B |
| Mutation (gDNA level) | chrX-119708447-C-T |
| Mutation (cDNA level) | c.26G>A |
| Reference sequence | NM_003588.3 |
| Prediction at protein level | G9E (p.Gly9Glu) |
| Mutation type | missense |
| Exon/intron location | exon 2 of 22 |
| Amino acid location | aa 9 of 914 |
| Gene associated phenotype(s) | Mental retardation, X-linked, syndromic 15 (Cabezas type) |
| ClinVar ID | na |
| dbSNP ID | rs149016283 |
| Clinical information (terms) | facial dysmorphism, growth delay, relative macrocephaly, moderate intellectual disability, ventricular septum abnormality |
| Clinical information (codes) | HP:0001999; HP:0001510; HP:0004482; HP:0002342; HP:0000256; HP:0010438 |
| Sex | male |
| A priori interpretation | possibly not affecting function |
| Comments | In silico analysis points to inconsistent results, with Mutation Taster, Mutation Assessor and several combined algorithms indicating that this variant is possibly benign, whereas Polyphen-2 and SIFT alone indicate that the variant might be damaging. For this variant, the overall allele frequency reported in ExAC is about 0,02% (0,0001937), with 11 hemizygotes identified on 23,999 individuals of European (non Finnish) descent (0,04%). It should be noted that individuals with severe pediatric disease have been removed from the ExAC database. Mental retardation, X-linked, syndromic 15 (Cabezas type) is characterized primarily by short stature, hypogonadism, and abnormal gait. Overall, especially based on allele frequency data, we think that there is a given likelyhood that this variant is not affecting the protein function, maybe representing a rare benign variant. |
| Submitter | na |
| References | OMIM 300354; OMIM 300304 |
Disclaimer: the free mutation interpretation service is complimentary and offered on a research basis only. Appropriate interpretation is possible only in presence of patient’s detailed clinical information and complete sequencing data. Raw data file may also be a necessary support in certain instances. Because of this, the above interpretation may be correct, partially correct or wrong. Since the originally submitted mutation might have been written in a wrong format, it is recommended to check again the correspondence between the mutation identified in this page and the originally submitted one. Breda Genetics is not liable for the use of the above results outside of a research context (i.e. for clinical purposes).
