NM_018669.6(WDR4):c.911_927dup (p.Gln310fs) AND Galloway-Mowat syndrome 6

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 8, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000758711.1

Allele description [Variation Report for NM_018669.6(WDR4):c.911_927dup (p.Gln310fs)]

NM_018669.6(WDR4):c.911_927dup (p.Gln310fs)

Gene:

WDR4:WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_018669.6(WDR4):c.911_927dup (p.Gln310fs)

HGVS:

NC_000021.9:g.42853617_42853633dup
NM_001260474.2:c.908_924dup
NM_001260475.2:c.473_489dup
NM_001260476.2:c.473_489dup
NM_001260477.2:c.473_489dup
NM_018669.6:c.911_927dupMANE SELECT
NM_033661.5:c.911_927dup
NP_001247403.1:p.Gln309fs
NP_001247404.1:p.Gln164fs
NP_001247405.1:p.Gln164fs
NP_001247406.1:p.Gln164fs
NP_061139.2:p.Gln310fs
NP_387510.1:p.Gln310fs
NP_387510.1:p.Gln310fs
NC_000021.8:g.44273727_44273743dup
NM_033661.4:c.911_927dup
NR_048535.1:n.891_907dup

Protein change:

Q164fs

Links:

OMIM: 605924.0003; dbSNP: rs1569314907

NCBI 1000 Genomes Browser:

rs1569314907

Molecular consequence:

NM_001260474.2:c.908_924dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001260475.2:c.473_489dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001260476.2:c.473_489dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001260477.2:c.473_489dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018669.6:c.911_927dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033661.5:c.911_927dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_048535.1:n.891_907dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Galloway-Mowat syndrome 6
Identifiers:: MONDO: MONDO:0032691; MedGen: C5193043; OMIM: 618347

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000887485	OMIM	no assertion criteria provided	Pathogenic (Mar 8, 2019)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000887485

OMIM

no assertion criteria provided

Pathogenic
(Mar 8, 2019)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.

Trimouille A, Lasseaux E, Barat P, Deiller C, Drunat S, Rooryck C, Arveiler B, Lacombe D.

Clin Genet. 2018 Feb;93(2):374-377. doi: 10.1111/cge.13074. Epub 2017 Sep 29.

PubMed [citation]

PMID:: 28617965

Details of each submission

From OMIM, SCV000887485.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the 16-bp duplication (c.911_927dup, NM_033661.4) in exon 9 of the WDR4 gene, resulting in a frameshift and premature termination (Gln310GlyfsTer30), that was found in compound heterozygous state in 2 sisters with Galloway-Mowat syndrome-6 (GAMOS6; 618347) by Trimouille et al. (2018), see 605924.0002.

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

Last Updated: May 16, 2025

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