NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer) AND X-linked intellectual disability Cabezas type

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 1, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001270368.1

Allele description [Variation Report for NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)]

NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)

Gene:

CUL4B:cullin 4B [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

Xq24

Genomic location:

Preferred name:

NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)

HGVS:

NC_000023.11:g.120544641_120544643delinsGGT
NG_009388.1:g.36187_36189delinsACC
NM_001079872.2:c.921_923delinsACCMANE SELECT
NM_001330624.2:c.936_938delinsACC
NM_001369145.1:c.387_389delinsACC
NM_003588.4:c.975_977delinsACC
NP_001073341.1:p.Trp307_Asp308delinsTer
NP_001317553.1:p.Trp312_Asp313delinsTer
NP_001356074.1:p.Trp129_Asp130delinsTer
NP_003579.3:p.Trp325_Asp326delinsTer
NC_000023.10:g.119678496_119678498delinsGGT
NM_003588.3:c.975_977delinsACC

Links:

Molecular consequence:

NM_001079872.2:c.921_923delinsACC - nonsense - [Sequence Ontology: SO:0001587]
NM_001330624.2:c.936_938delinsACC - nonsense - [Sequence Ontology: SO:0001587]
NM_001369145.1:c.387_389delinsACC - nonsense - [Sequence Ontology: SO:0001587]
NM_003588.4:c.975_977delinsACC - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: X-linked intellectual disability Cabezas type (MRXSC)
Synonyms:: CABEZAS SYNDROME; MENTAL RETARDATION, X-LINKED, SYNDROMIC 15; Mental retardation with short stature, hypogonadism and abnormal gait, X-linked; See all synonyms [MedGen]
Identifiers:: Gene: 114890; MONDO: MONDO:0010306; MedGen: C1845861; Orphanet: 85289; Orphanet: 85293; OMIM: 300354

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001450648	Service de Génétique Moléculaire, Hôpital Robert Debré	no assertion criteria provided	Likely pathogenic (Sep 1, 2020)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001450648

Service de Génétique Moléculaire, Hôpital Robert Debré

no assertion criteria provided

Likely pathogenic
(Sep 1, 2020)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001450648.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 21, 2023

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