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NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys) AND Intellectual disability, X-linked 102

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 14, 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:
RCV001270420.2

Allele description [Variation Report for NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)]

NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)

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.1574A>G (p.Tyr525Cys)
HGVS:
  • NC_000023.11:g.41346581A>G
  • NG_012830.2:g.18184A>G
  • NM_001193416.3:c.1574A>G
  • NM_001193417.3:c.1526A>G
  • NM_001356.5:c.1574A>GMANE SELECT
  • NM_001363819.1:c.1016A>G
  • NP_001180345.1:p.Tyr525Cys
  • NP_001180346.1:p.Tyr509Cys
  • NP_001347.3:p.Tyr525Cys
  • NP_001350748.1:p.Tyr339Cys
  • NC_000023.10:g.41205834A>G
  • NM_001356.4:c.1574A>G
  • NR_126093.1:n.2519A>G
Protein change:
Y339C
Links:
Molecular consequence:
  • NM_001193416.3:c.1574A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193417.3:c.1526A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001356.5:c.1574A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363819.1:c.1016A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126093.1:n.2519A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001450707Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Likely pathogenic
(Oct 14, 2020) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001450707.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024