NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) AND X-linked intellectual disability-hypotonia-movement disorder syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 4, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002287388.9

Allele description [Variation Report for NM_001356.5(DDX3X):c.1535_1536del (p.His512fs)]

NM_001356.5(DDX3X):c.1535_1536del (p.His512fs)

Gene:

DDX3X:DEAD-box helicase 3 X-linked [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp11.4

Genomic location:

Preferred name:

NM_001356.5(DDX3X):c.1535_1536del (p.His512fs)

HGVS:

NC_000023.11:g.41346542_41346543del
NG_012830.2:g.18145_18146del
NM_001193416.3:c.1535_1536del
NM_001193417.3:c.1487_1488del
NM_001356.5:c.1535_1536delMANE SELECT
NM_001363819.1:c.977_978del
NP_001180345.1:p.His512fs
NP_001180346.1:p.His496fs
NP_001347.3:p.His512fs
NP_001350748.1:p.His326fs
NC_000023.10:g.41205795_41205796del
NC_000023.10:g.41205795_41205796delAT
NM_001193416.1:c.1535_1536del
NM_001193416.1:c.1535_1536delAT
NM_001356.3:c.1535_1536delAT
NM_001356.4:c.1535_1536del
NM_001356.4:c.1535_1536delAT
NR_126093.1:n.2480_2481del
p.H512Rfs*5

Protein change:

H326fs

Links:

OMIM: 300160.0013; dbSNP: rs796052230

NCBI 1000 Genomes Browser:

rs796052230

Molecular consequence:

NM_001193416.3:c.1535_1536del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001193417.3:c.1487_1488del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001356.5:c.1535_1536del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363819.1:c.977_978del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_126093.1:n.2480_2481del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: X-linked intellectual disability-hypotonia-movement disorder syndrome
Identifiers:: MONDO: MONDO:0018709; MedGen: C5681121

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002577688	Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	criteria provided, single submitter (Parc Tauli Hospital Assertion Criteria 2021)	Pathogenic (Oct 4, 2022)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002577688

Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli

criteria provided, single submitter

(Parc Tauli Hospital Assertion Criteria 2021)

Pathogenic
(Oct 4, 2022)

de novo

clinical testing

Citation Link

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 Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli, SCV002577688.1

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

Description

PVS1;PM2_supporting;PM6;PP5

#	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 26, 2024

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