NM_024426.6(WT1):c.1447+5G>A AND Drash syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jan 27, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000003665.6

Allele description [Variation Report for NM_024426.6(WT1):c.1447+5G>A]

NM_024426.6(WT1):c.1447+5G>A

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.1447+5G>A

Other names:

splice site; 1432+5G>A; IVS9+5G>A

HGVS:

NC_000011.10:g.32391967C>T
NG_009272.1:g.48575G>A
NM_000378.6:c.1387+14G>A
NM_001198551.2:c.787+14G>A
NM_001198552.2:c.745+5G>A
NM_001367854.1:c.259+5G>A
NM_001407044.1:c.1432+14G>A
NM_001407045.1:c.1396+5G>A
NM_001407046.1:c.1354+699G>A
NM_001407047.1:c.1315+14G>A
NM_001407048.1:c.1306+5G>A
NM_001407049.1:c.1303+699G>A
NM_001407050.1:c.1273+5G>A
NM_001407051.1:c.685+5G>A
NM_024424.5:c.1438+14G>A
NM_024426.6:c.1447+5G>AMANE SELECT
LRG_525:g.48575G>A
NC_000011.9:g.32413513C>T
NM_024426.2:c.1228+5G>A
NM_024426.4:c.1432+5G>A

Nucleotide change:

IVS9DS, G-A, +5

Links:

OMIM: 607102.0009; OMIM: 607102.0020; dbSNP: rs587776576

NCBI 1000 Genomes Browser:

rs587776576

Molecular consequence:

NM_000378.6:c.1387+14G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001198551.2:c.787+14G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001198552.2:c.745+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001367854.1:c.259+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407044.1:c.1432+14G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407045.1:c.1396+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407046.1:c.1354+699G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407047.1:c.1315+14G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407048.1:c.1306+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407049.1:c.1303+699G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407050.1:c.1273+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407051.1:c.685+5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_024424.5:c.1438+14G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_024426.6:c.1447+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

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
SCV000023828	OMIM	no assertion criteria provided	Pathogenic (May 1, 1992)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000890902	Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 1, 2018)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 9398852, 1302008, 9499425, 10762296, 25741868
SCV002072597	Daryl Scott Lab, Baylor College of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 27, 2022)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 35904974

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023828

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1992)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000890902

Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 1, 2018)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV002072597

Daryl Scott Lab, Baylor College of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 27, 2022)

de novo

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Donor splice-site mutations in WT1 are responsible for Frasier syndrome.

Barbaux S, Niaudet P, Gubler MC, Grünfeld JP, Jaubert F, Kuttenn F, Fékété CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K.

Nat Genet. 1997 Dec;17(4):467-70.

PubMed [citation]

PMID:: 9398852

Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.

Bruening W, Bardeesy N, Silverman BL, Cohn RA, Machin GA, Aronson AJ, Housman D, Pelletier J.

Nat Genet. 1992 May;1(2):144-8.

PubMed [citation]

PMID:: 1302008

See all PubMed Citations (6)

Details of each submission

From OMIM, SCV000023828.1

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

Description

In a patient with Denys-Drash syndrome (194080), with renal failure due to glomerular sclerosis associated with female external genitalia and a 46,XY karyotype, Bruening et al. (1992) identified a G-to-A transition at position +5 of the splice donor site within intron 9. It appeared that the mutation affected the alternative splice site selection at exon 9.

#	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 Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV000890902.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (5)

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

From Daryl Scott Lab, Baylor College of Medicine, SCV002072597.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

#	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		1	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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