NM_000378.4(WT1):c.1339G>A (p.Asp447Asn) AND Diffuse mesangial sclerosis

Clinical significance:Pathogenic (Last evaluated: Jan 28, 2013)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000003662.1

Allele description [Variation Report for NM_000378.4(WT1):c.1339G>A (p.Asp447Asn)]

Gene:
WT1:Wilms tumor 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_000378.4(WT1):c.1339G>A (p.Asp447Asn)
HGVS:
  • NC_000011.10:g.32392014C>T
  • NG_009272.1:g.48528G>A
  • NM_000378.4:c.1339G>A
  • NM_001198551.1:c.754G>A
  • NM_024426.4:c.1390G>A
  • NP_000369.3:p.Asp447Asn
  • NP_001185480.1:p.Asp252Asn
  • NP_077744.3:p.Asp464Asn
  • NC_000011.9:g.32413560C>T
Protein change:
D396N; ASP396ASN
Links:
OMIM: 607102.0006; dbSNP: 28941778
NCBI 1000 Genomes Browser:
rs28941778
Molecular consequence:
  • NM_024426.4:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Diffuse mesangial sclerosis (NPHS4)
Synonyms:
NEPHROTIC SYNDROME, TYPE 4; Familial mesangial sclerosis
Identifiers:
MedGen: C0268747; OMIM: 256370; Orphanet: 656
Age of onset:
Variable

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000023825OMIMPathogenic
(Jan 28, 2013)
germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

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 (4)

Details of each submission

From OMIM, SCV000023825.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

In a patient with Denys-Drash syndrome (194080), Pelletier et al. (1991) identified a 1186G-A transition in the WT1 gene, resulting in an asp396-to-asn (D396N) substitution.

Baird et al. (1992) and Little et al.(1993) identified the D396N mutation in patients with Denys-Drash syndrome. Wilms tumor tissue derived from the patient reported by Little et al. (1993) showed complete loss of WT1.

In a 46,XX female with normal external genitalia and nephrotic syndrome (NPHS4; 256370), Jeanpierre et al. (1998) identified heterozygosity for the 1186G-A transition in exon 9 of the WT1 gene, leading to the D396N substitution.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2014

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