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NM_024426.6(WT1):c.1316G>A (p.Arg439His) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 24, 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:
RCV000484493.1

Allele description

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_001198551.1:c.665G>A
  • NM_001198552.2:c.614G>A
  • NM_001367854.1:c.128G>A
  • NM_024424.5:c.1316G>A
  • NM_024426.6:c.1316G>AMANE SELECT
  • NP_000369.4:p.Arg422His
  • NP_001185480.1:p.Arg222His
  • NP_001185481.1:p.Arg205His
  • NP_001354783.1:p.Arg43His
  • NP_077742.3:p.Arg439His
  • 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_024426.3:c.1301G>A
  • NM_024426.4:c.1301G>A
  • NM_024426.5:c.1316G>A
  • NR_160306.1:n.1648G>A
Protein change:
R205H; 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_001198551.1: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_024424.5:c.1316G>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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000568577GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Feb 24, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000568577.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R434H variant in the WT1 gene has been reported previously (reported as R366H due to alternate nomenclature) in multiple individuals with Denys Drash syndrome and at least one patient with apparently isolated diffuse mesangial sclerosis (Hillen et al., 2016; Pelletier et al., 1991; Hahn et al., 2006). The R434H variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R434H variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. Functional studies showed that R434H was associated with a decrease in DNA binding affinity when compared to the wild-type protein (Borel et al., 1996). We interpret R434H as a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 17, 2021