NM_001356.5(DDX3X):c.1171-2A>G AND Intellectual disability, X-linked 102

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 16, 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:: RCV002227416.2

Allele description [Variation Report for NM_001356.5(DDX3X):c.1171-2A>G]

NM_001356.5(DDX3X):c.1171-2A>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

Preferred name:

NM_001356.5(DDX3X):c.1171-2A>G

HGVS:

NC_000023.11:g.41345402A>G
NG_012830.2:g.17005A>G
NM_001193416.3:c.1171-2A>G
NM_001193417.3:c.1123-2A>G
NM_001356.5:c.1171-2A>GMANE SELECT
NM_001363819.1:c.613-2A>G
NC_000023.10:g.41204655A>G

Links:

dbSNP: rs2147356545

NCBI 1000 Genomes Browser:

rs2147356545

Molecular consequence:

NM_001193416.3:c.1171-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001193417.3:c.1123-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001356.5:c.1171-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001363819.1:c.613-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Intellectual disability, X-linked 102 (MRXSSB)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE
Identifiers:: MONDO: MONDO:0010497; MedGen: C5393299; Orphanet: 457260; OMIM: 300958

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002506515	Laboratory of Human Genetics, Universidade de São Paulo	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 16, 2022)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002506515

Laboratory of Human Genetics, Universidade de São Paulo

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 16, 2022)

unknown

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory of Human Genetics, Universidade de São Paulo, SCV002506515.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	research	PubMed (1)

Description

Variant disclosed in a girl presenting with intellectual disability and X-chromosome inativation skewing, without family history of neurodevelopmental disorders.

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

Last Updated: Jun 23, 2024

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