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NM_001356.5(DDX3X):c.1099dup (p.Gln367fs) AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 26, 2021
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:
RCV001420280.2

Allele description [Variation Report for NM_001356.5(DDX3X):c.1099dup (p.Gln367fs)]

NM_001356.5(DDX3X):c.1099dup (p.Gln367fs)

Gene:
DDX3X:DEAD-box helicase 3 X-linked [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001356.5(DDX3X):c.1099dup (p.Gln367fs)
HGVS:
  • NC_000023.11:g.41345253dup
  • NG_012830.2:g.16856dup
  • NM_001193416.3:c.1099dup
  • NM_001193417.3:c.1051dup
  • NM_001356.5:c.1099dupMANE SELECT
  • NM_001363819.1:c.541dup
  • NP_001180345.1:p.Gln367fs
  • NP_001180346.1:p.Gln351fs
  • NP_001347.3:p.Gln367fs
  • NP_001350748.1:p.Gln181fs
  • NC_000023.10:g.41204506dup
  • NM_001356.3:c.1099dupC
  • NR_126093.1:n.2044dup
Protein change:
Q181fs
Links:
dbSNP: rs1555953819
NCBI 1000 Genomes Browser:
rs1555953819
Molecular consequence:
  • NM_001193416.3:c.1099dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001193417.3:c.1051dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001356.5:c.1099dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363819.1:c.541dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_126093.1:n.2044dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001622700Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli
criteria provided, single submitter

(Parc Tauli Hospital Assertion Criteria 2021)		Pathogenic
(Apr 26, 2021) 		de novoclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli, SCV001622700.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

PVS1_very strong;PM2_supporting;PM6_moderate;PP3_supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024