NM_024426.6(WT1):c.1316G>A (p.Arg439His) AND Drash syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 1, 2016
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:: RCV000003659.5

Allele description [Variation Report for NM_024426.6(WT1):c.1316G>A (p.Arg439His)]

NM_024426.6(WT1):c.1316G>A (p.Arg439His)

Gene:

WT1:WT1 transcription factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p13

Genomic location:

Preferred name:

NM_024426.6(WT1):c.1316G>A (p.Arg439His)

Other names:

R366H

HGVS:

NC_000011.10:g.32392704C>T
NG_009272.1:g.47838G>A
NM_000378.6:c.1265G>A
NM_001198551.2:c.665G>A
NM_001198552.2:c.614G>A
NM_001367854.1:c.128G>A
NM_001407044.1:c.1310G>A
NM_001407045.1:c.1265G>A
NM_001407046.1:c.1316G>A
NM_001407047.1:c.1193G>A
NM_001407049.1:c.1265G>A
NM_001407050.1:c.1142G>A
NM_001407051.1:c.554G>A
NM_024424.5:c.1316G>A
NM_024425.2:c.1250G>A
NM_024426.6:c.1316G>AMANE SELECT
NP_000369.4:p.Arg422His
NP_001185480.1:p.Arg222His
NP_001185480.1:p.Arg222His
NP_001185481.1:p.Arg205His
NP_001354783.1:p.Arg43His
NP_001393973.1:p.Arg437His
NP_001393974.1:p.Arg422His
NP_001393975.1:p.Arg439His
NP_001393976.1:p.Arg398His
NP_001393978.1:p.Arg422His
NP_001393979.1:p.Arg381His
NP_001393980.1:p.Arg185His
NP_077742.3:p.Arg439His
NP_077743.2:p.Arg417His
NP_077744.3:p.Arg434His
NP_077744.4:p.Arg439His
LRG_525t1:c.1301G>A
LRG_525t2:c.665G>A
LRG_525:g.47838G>A
LRG_525p1:p.Arg434His
LRG_525p2:p.Arg222His
NC_000011.9:g.32414250C>T
NM_001198551.1:c.665G>A
NM_024426.2:c.1097G>A
NM_024426.3:c.1301G>A
NM_024426.4:c.1301G>A
NM_024426.5:c.1316G>A
NR_160306.1:n.1648G>A
NR_176266.1:n.1597G>A

Protein change:

R185H; ARG366HIS

Links:

OMIM: 607102.0004; dbSNP: rs121907901

NCBI 1000 Genomes Browser:

rs121907901

Molecular consequence:

NM_000378.6:c.1265G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001198551.2:c.665G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001198552.2:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367854.1:c.128G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407044.1:c.1310G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407045.1:c.1265G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407046.1:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407047.1:c.1193G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407049.1:c.1265G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407050.1:c.1142G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407051.1:c.554G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024424.5:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024425.2:c.1250G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024426.6:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_160306.1:n.1648G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Drash syndrome (DDS)
Synonyms:: WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM; Wilms tumor and pseudohermaphroditism; Nephropathy, wilms tumor, and genital anomalies; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008682; MedGen: C0950121; Orphanet: 220; OMIM: 194080

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023822	OMIM	no assertion criteria provided	Pathogenic (Feb 15, 2008)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 1655284, 1338906, 18203154
SCV000265969	Human Genetics Disease in Children – Taif University, Taif University	no assertion criteria provided	Pathogenic (Jan 1, 2016)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023822

OMIM

no assertion criteria provided

Pathogenic
(Feb 15, 2008)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

SCV000265969

Human Genetics Disease in Children – Taif University, Taif University

no assertion criteria provided

Pathogenic
(Jan 1, 2016)

unknown

clinical testing

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
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.

Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L, et al.

Cell. 1991 Oct 18;67(2):437-47.

PubMed [citation]

PMID:: 1655284

Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.

Baird PN, Santos A, Groves N, Jadresic L, Cowell JK.

Hum Mol Genet. 1992 Aug;1(5):301-5.

PubMed [citation]

PMID:: 1338906

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000023822.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

In a patient with Denys-Drash syndrome (194080), Pelletier et al. (1991) identified a G-to-A transition in exon 8 of the WT1 gene, resulting in an arg366-to-his (R366H) substitution in the second zinc finger domain. The same mutation was observed by Baird et al. (1992) in a patient with Denys-Drash syndrome.

Antonius et al. (2008) reported another patient with Denys-Drash syndrome and a heterozygous R366H substitution. The authors stated that 10 DDS patients had been reported with this specific mutation, and noted that their patient was the third reported patient with DDS and congenital diaphragmatic hernia associated with the R366H mutation. A mutation in this same codon (R366C; 607102.0026) has been identified in a patient with Meacham syndrome (608978) and diaphragmatic hernia.

#	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

From Human Genetics Disease in Children – Taif University, Taif University, SCV000265969.1

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

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

Last Updated: Sep 29, 2024

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