NM_024426.6(WT1):c.1124G>A (p.Arg375His) AND Wilms tumor 1

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 28, 2017
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:: RCV001107843.5

Allele description [Variation Report for NM_024426.6(WT1):c.1124G>A (p.Arg375His)]

NM_024426.6(WT1):c.1124G>A (p.Arg375His)

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.1124G>A (p.Arg375His)

HGVS:

NC_000011.10:g.32396397C>T
NG_009272.1:g.44145G>A
NM_000378.6:c.1073G>A
NM_001198551.2:c.473G>A
NM_001198552.2:c.422G>A
NM_001367854.1:c.-65G>A
NM_001407044.1:c.1118G>A
NM_001407045.1:c.1073G>A
NM_001407046.1:c.1124G>A
NM_001407047.1:c.1001G>A
NM_001407048.1:c.1073G>A
NM_001407049.1:c.1073G>A
NM_001407050.1:c.950G>A
NM_001407051.1:c.362G>A
NM_024424.5:c.1124G>A
NM_024425.2:c.1058G>A
NM_024426.6:c.1124G>AMANE SELECT
NP_000369.4:p.Arg358His
NP_001185480.1:p.Arg158His
NP_001185480.1:p.Arg158His
NP_001185481.1:p.Arg141His
NP_001393973.1:p.Arg373His
NP_001393974.1:p.Arg358His
NP_001393975.1:p.Arg375His
NP_001393976.1:p.Arg334His
NP_001393977.1:p.Arg358His
NP_001393978.1:p.Arg358His
NP_001393979.1:p.Arg317His
NP_001393980.1:p.Arg121His
NP_077742.3:p.Arg375His
NP_077743.2:p.Arg353His
NP_077744.3:p.Arg370His
NP_077744.4:p.Arg375His
LRG_525t1:c.1109G>A
LRG_525t2:c.473G>A
LRG_525:g.44145G>A
LRG_525p1:p.Arg370His
LRG_525p2:p.Arg158His
NC_000011.9:g.32417943C>T
NM_001198551.1:c.473G>A
NM_024426.3:c.1109G>A
NM_024426.4:c.1109G>A
NR_160306.1:n.1456G>A
NR_176266.1:n.1405G>A

Protein change:

R121H

Links:

dbSNP: rs554416372

NCBI 1000 Genomes Browser:

rs554416372

Molecular consequence:

NM_001367854.1:c.-65G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000378.6:c.1073G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001198551.2:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001198552.2:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407044.1:c.1118G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407045.1:c.1073G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407046.1:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407047.1:c.1001G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407048.1:c.1073G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407049.1:c.1073G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407050.1:c.950G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407051.1:c.362G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024424.5:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024425.2:c.1058G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024426.6:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_160306.1:n.1456G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001265028	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 28, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001265028

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 28, 2017)

germline

clinical testing

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

Citation Link

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

Novel WT1 Missense Mutations in Han Chinese Women with Premature Ovarian Failure.

Wang H, Li G, Zhang J, Gao F, Li W, Qin Y, Chen ZJ.

Sci Rep. 2015 Sep 11;5:13983. doi: 10.1038/srep13983.

PubMed [citation]

PMID:: 26358501
PMCID:: PMC4566091

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001265028.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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: Sep 29, 2024

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