U.S. flag

An official website of the United States government

  • previous

NM_001356.4(DDX3X):c.1383dupA (p.Tyr462Ilefs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 28, 2015
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:
RCV000190105.1

Allele description

NM_001356.4(DDX3X):c.1383dupA (p.Tyr462Ilefs)

Gene:
DDX3X:DEAD-box helicase 3, X-linked [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001356.4(DDX3X):c.1383dupA (p.Tyr462Ilefs)
HGVS:
  • NC_000023.11:g.41346296dupA
  • NG_012830.2:g.17899dupA
  • NM_001356.4:c.1383dupA
  • NP_001347.3:p.Tyr462Ilefs
  • NC_000023.10:g.41205549dupA
  • NM_001356.3:c.1383dupA
  • NR_126093.1:n.2328dupA
  • p.Y462Ifs*3
Links:
dbSNP: rs796052228
NCBI 1000 Genomes Browser:
rs796052228
Molecular consequence:
  • NM_001356.4:c.1383dupA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_126093.1:n.2328dupA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN221809

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000240186GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jul 28, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000240186.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

c.1383dupA: p.Tyr462Ilefs*3 in exon 13 in the DDX3X gene (NM_001356.3). The normal sequence with the base that is duplicated in braces is: TCTT{A}TACC. The c.1383dupA variant in the DDX3X gene causes a frameshift starting with codon Tyrosine 462, changes this amino acid to an Isoleucine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Tyr462Ilefs*3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1383dupA variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1383dupA as a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 26, 2016