NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter) AND Global developmental delay

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2019
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:: RCV001255400.4

Allele description [Variation Report for NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter)]

NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter)

Genes:

LOC126863256:BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047 [Gene]
WDR45:WD repeat domain 45 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

Preferred name:

NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter)

HGVS:

NC_000023.11:g.49078077G>A
NG_033004.2:g.28094C>T
NM_001029896.2:c.19C>TMANE SELECT
NM_007075.4:c.19C>T
NP_001025067.1:p.Arg7Ter
NP_009006.2:p.Arg7Ter
NP_009006.2:p.Arg7Ter
NC_000023.10:g.48935736G>A
NM_007075.3:c.19C>T

Protein change:

R7*

Links:

dbSNP: rs886041382

NCBI 1000 Genomes Browser:

rs886041382

Molecular consequence:

NM_001029896.2:c.19C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007075.4:c.19C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001431800	Génétique des Maladies du Développement, Hospices Civils de Lyon	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 1, 2019)	de novo	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

SCV001431800

Génétique des Maladies du Développement, Hospices Civils de Lyon

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 1, 2019)

de novo

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Effect of HIV Infection and Highly Active Antiretroviral Therapy on Hearing Function: A Prospective Case-Control Study From Cameroon.

Fokouo JV, Vokwely JE, Noubiap JJ, Nouthe BE, Zafack J, Minka Ngom ES, Dalil AB, Ngo Nyeki AR, Bengono G, Njock R.

JAMA Otolaryngol Head Neck Surg. 2015 May 1;141(5):436-41. doi: 10.1001/jamaoto.2015.125.

PubMed [citation]

PMID:: 25741887

Details of each submission

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV001431800.1

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

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

Last Updated: Oct 20, 2024

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