NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 30, 2023
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:: RCV000685465.7

Allele description [Variation Report for NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)]

NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)

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.1303C>T (p.Arg435Ter)

Other names:

R362*

HGVS:

NC_000011.10:g.32392717G>A
NG_009272.1:g.47825C>T
NM_000378.6:c.1252C>T
NM_001198551.2:c.652C>T
NM_001198552.2:c.601C>T
NM_001367854.1:c.115C>T
NM_001407044.1:c.1297C>T
NM_001407045.1:c.1252C>T
NM_001407046.1:c.1303C>T
NM_001407047.1:c.1180C>T
NM_001407049.1:c.1252C>T
NM_001407050.1:c.1129C>T
NM_001407051.1:c.541C>T
NM_024424.5:c.1303C>T
NM_024425.2:c.1237C>T
NM_024426.6:c.1303C>TMANE SELECT
NP_000369.4:p.Arg418Ter
NP_001185480.1:p.Arg218Ter
NP_001185480.1:p.Arg218Ter
NP_001185481.1:p.Arg201Ter
NP_001354783.1:p.Arg39Ter
NP_001393973.1:p.Arg433Ter
NP_001393974.1:p.Arg418Ter
NP_001393975.1:p.Arg435Ter
NP_001393976.1:p.Arg394Ter
NP_001393978.1:p.Arg418Ter
NP_001393979.1:p.Arg377Ter
NP_001393980.1:p.Arg181Ter
NP_077742.3:p.Arg435Ter
NP_077743.2:p.Arg413Ter
NP_077744.3:p.Arg430Ter
NP_077744.4:p.Arg435Ter
LRG_525t1:c.1288C>T
LRG_525t2:c.652C>T
LRG_525:g.47825C>T
LRG_525p1:p.Arg430Ter
LRG_525p2:p.Arg218Ter
NC_000011.9:g.32414263G>A
NM_001198551.1:c.652C>T
NM_024426.3:c.1288C>T
NM_024426.4:c.1288C>T
NM_024426.5:c.1303C>T
NR_160306.1:n.1635C>T
NR_176266.1:n.1584C>T

Protein change:

R181*; ARG362TER

Links:

OMIM: 607102.0014; dbSNP: rs121907906

NCBI 1000 Genomes Browser:

rs121907906

Molecular consequence:

NR_160306.1:n.1635C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000378.6:c.1252C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001198551.2:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001198552.2:c.601C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001367854.1:c.115C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407044.1:c.1297C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407045.1:c.1252C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407046.1:c.1303C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407047.1:c.1180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407049.1:c.1252C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407050.1:c.1129C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407051.1:c.541C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_024424.5:c.1303C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_024425.2:c.1237C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_024426.6:c.1303C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Name:: Frasier syndrome
Identifiers:: MONDO: MONDO:0007635; MeSH: D052159; MedGen: C0950122; Orphanet: 347; OMIM: 136680

Name:: Wilms tumor 1 (WT1)
Synonyms:: Wilms tumor, somatic
Identifiers:: MONDO: MONDO:0008679; MedGen: CN033288; Orphanet: 654; OMIM: 194070

Name:: 11p partial monosomy syndrome (WAGR)
Synonyms:: CHROMOSOME 11p13 DELETION SYNDROME; WAGR syndrome; WAGR Complex; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008681; MedGen: C0206115; Orphanet: 893; OMIM: 194072

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000812947	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 30, 2023)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 8975729, 20106868, 21508141, 23515051, 25818337, 15150775, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000812947

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 30, 2023)

germline

clinical testing

PubMed (7)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Familial Wilms' tumor associated with a WT1 zinc finger mutation.

Kaplinsky C, Ghahremani M, Frishberg Y, Rechavi G, Pelletier J.

Genomics. 1996 Dec 15;38(3):451-3. No abstract available.

PubMed [citation]

PMID:: 8975729

Wilms tumor cells with WT1 mutations have characteristic features of mesenchymal stem cells and express molecular markers of paraxial mesoderm.

Royer-Pokora B, Busch M, Beier M, Duhme C, de Torres C, Mora J, Brandt A, Royer HD.

Hum Mol Genet. 2010 May 1;19(9):1651-68. doi: 10.1093/hmg/ddq042. Epub 2010 Jan 27.

PubMed [citation]

PMID:: 20106868

See all PubMed Citations (7)

Details of each submission

From Invitae, SCV000812947.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 3497). This variant is also known as p.Arg362*. This premature translational stop signal has been observed in individuals with Wilms tumor (PMID: 8975729, 20106868, 21508141, 23515051, 25818337). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg430*) in the WT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WT1 are known to be pathogenic (PMID: 15150775).

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

Last Updated: Apr 6, 2024

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