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NM_001356.5(DDX3X):c.1528G>A (p.Val510Met) AND Intellectual disability, X-linked 102

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 30, 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:
RCV002463417.1

Allele description [Variation Report for NM_001356.5(DDX3X):c.1528G>A (p.Val510Met)]

NM_001356.5(DDX3X):c.1528G>A (p.Val510Met)

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.1528G>A (p.Val510Met)
HGVS:
  • NC_000023.11:g.41346535G>A
  • NG_012830.2:g.18138G>A
  • NM_001193416.3:c.1528G>A
  • NM_001193417.3:c.1480G>A
  • NM_001356.5:c.1528G>AMANE SELECT
  • NM_001363819.1:c.970G>A
  • NP_001180345.1:p.Val510Met
  • NP_001180346.1:p.Val494Met
  • NP_001347.3:p.Val510Met
  • NP_001350748.1:p.Val324Met
  • NC_000023.10:g.41205788G>A
  • NM_001356.4:c.1528G>A
  • NR_126093.1:n.2473G>A
Protein change:
V324M
Molecular consequence:
  • NM_001193416.3:c.1528G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193417.3:c.1480G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001356.5:c.1528G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363819.1:c.970G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126093.1:n.2473G>A - 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
SCV002757853Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 30, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

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 Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn, SCV002757853.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 21, 2023