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NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 29, 2022
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:
RCV002527574.1

Allele description [Variation Report for NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)]

NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)

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.1120C>T (p.Arg374Ter)
HGVS:
  • NC_000011.10:g.32396401G>A
  • NG_009272.1:g.44141C>T
  • NM_000378.6:c.1069C>T
  • NM_001198551.2:c.469C>T
  • NM_001198552.2:c.418C>T
  • NM_001367854.1:c.-69C>T
  • NM_001407044.1:c.1114C>T
  • NM_001407045.1:c.1069C>T
  • NM_001407046.1:c.1120C>T
  • NM_001407047.1:c.997C>T
  • NM_001407048.1:c.1069C>T
  • NM_001407049.1:c.1069C>T
  • NM_001407050.1:c.946C>T
  • NM_001407051.1:c.358C>T
  • NM_024424.5:c.1120C>T
  • NM_024425.2:c.1054C>T
  • NM_024426.6:c.1120C>TMANE SELECT
  • NP_000369.4:p.Arg357Ter
  • NP_001185480.1:p.Arg157Ter
  • NP_001185480.1:p.Arg157Ter
  • NP_001185481.1:p.Arg140Ter
  • NP_001393973.1:p.Arg372Ter
  • NP_001393974.1:p.Arg357Ter
  • NP_001393975.1:p.Arg374Ter
  • NP_001393976.1:p.Arg333Ter
  • NP_001393977.1:p.Arg357Ter
  • NP_001393978.1:p.Arg357Ter
  • NP_001393979.1:p.Arg316Ter
  • NP_001393980.1:p.Arg120Ter
  • NP_077742.3:p.Arg374Ter
  • NP_077743.2:p.Arg352Ter
  • NP_077744.3:p.Arg369Ter
  • NP_077744.4:p.Arg374Ter
  • LRG_525t1:c.1105C>T
  • LRG_525t2:c.469C>T
  • LRG_525:g.44141C>T
  • LRG_525p1:p.Arg369Ter
  • LRG_525p2:p.Arg157Ter
  • NC_000011.9:g.32417947G>A
  • NM_000378.4:c.1054C>T
  • NM_001198551.1:c.469C>T
  • NM_024426.3:c.1105C>T
  • NM_024426.4:c.1105C>T
  • NR_160306.1:n.1452C>T
  • NR_176266.1:n.1401C>T
Protein change:
R120*
Links:
dbSNP: rs1423753702
NCBI 1000 Genomes Browser:
rs1423753702
Molecular consequence:
  • NM_001367854.1:c.-69C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_160306.1:n.1452C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000378.6:c.1069C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001198551.2:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001198552.2:c.418C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407044.1:c.1114C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407045.1:c.1069C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407046.1:c.1120C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407047.1:c.997C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407048.1:c.1069C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407049.1:c.1069C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407050.1:c.946C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407051.1:c.358C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024424.5:c.1120C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024425.2:c.1054C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024426.6:c.1120C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003606911Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Apr 29, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor.

Terenziani M, Sardella M, Gamba B, Testi MA, Spreafico F, Ardissino G, Fedeli F, Fossati-Bellani F, Radice P, Perotti D.

Pediatr Nephrol. 2009 Jul;24(7):1413-7. doi: 10.1007/s00467-008-1056-y. Epub 2008 Dec 2.

PubMed [citation]
PMID:
19048299

Details of each submission

From Ambry Genetics, SCV003606911.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.1105C>T (p.R369*) alteration, located in exon 7 (coding exon 7) of the WT1 gene, consists of a C to T substitution at nucleotide position 1105. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 369. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of <0.01% (1/31402) total alleles studied. This alteration has been reported de novo in a male patient with bilateral cryptorchidism, nystagmus, mild proteinuria, and Wilms tumor (Terenziani, 2009). Based on the available evidence, this alteration is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: May 26, 2024