NM_001356.5(DDX3X):c.1039_1040inv (p.Asp347Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 17, 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:: RCV003023988.3

Allele description [Variation Report for NM_001356.5(DDX3X):c.1039_1040inv (p.Asp347Ser)]

NM_001356.5(DDX3X):c.1039_1040inv (p.Asp347Ser)

Gene:

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

Variant type:

Inversion

Cytogenetic location:

Xp11.4

Genomic location:

Preferred name:

NM_001356.5(DDX3X):c.1039_1040inv (p.Asp347Ser)

HGVS:

NC_000023.11:g.41345193_41345194inv
NG_012830.2:g.16796_16797inv
NM_001193416.3:c.1039_1040inv
NM_001193417.3:c.991_992inv
NM_001356.5:c.1039_1040invMANE SELECT
NM_001363819.1:c.481_482inv
NP_001180345.1:p.Asp347Ser
NP_001180346.1:p.Asp331Ser
NP_001347.3:p.Asp347Ser
NP_001350748.1:p.Asp161Ser
NC_000023.10:g.41204446_41204447delinsTC
NC_000023.10:g.41204446_41204447inv
NR_126093.1:n.1984_1985inv

Protein change:

D161S

Molecular consequence:

NM_001193416.3:c.1039_1040inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001193417.3:c.991_992inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001356.5:c.1039_1040inv - missense variant - [Sequence Ontology: SO:0001583]
NM_001363819.1:c.481_482inv - missense variant - [Sequence Ontology: SO:0001583]
NR_126093.1:n.1984_1985inv - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003329824	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 17, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003329824

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 17, 2022)

germline

clinical testing

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003329824.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DDX3X-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces aspartic acid, which is acidic and polar, with serine, which is neutral and polar, at codon 347 of the DDX3X protein (p.Asp347Ser).

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

Last Updated: Sep 29, 2024

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