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NM_024426.6(WT1):c.798C>G (p.Tyr266Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 13, 2020
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:
RCV001390720.5

Allele description [Variation Report for NM_024426.6(WT1):c.798C>G (p.Tyr266Ter)]

NM_024426.6(WT1):c.798C>G (p.Tyr266Ter)

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.798C>G (p.Tyr266Ter)
HGVS:
  • NC_000011.10:g.32428045G>C
  • NG_009272.1:g.12497C>G
  • NM_000378.6:c.798C>G
  • NM_001198551.2:c.147C>G
  • NM_001198552.2:c.147C>G
  • NM_001407044.1:c.798C>G
  • NM_001407045.1:c.798C>G
  • NM_001407046.1:c.798C>G
  • NM_001407047.1:c.675C>G
  • NM_001407048.1:c.798C>G
  • NM_001407049.1:c.798C>G
  • NM_001407050.1:c.675C>G
  • NM_001407051.1:c.36C>G
  • NM_024424.5:c.798C>G
  • NM_024425.2:c.783C>G
  • NM_024426.6:c.798C>GMANE SELECT
  • NP_000369.4:p.Tyr266Ter
  • NP_001185480.1:p.Tyr49Ter
  • NP_001185480.1:p.Tyr49Ter
  • NP_001185481.1:p.Tyr49Ter
  • NP_001393973.1:p.Tyr266Ter
  • NP_001393974.1:p.Tyr266Ter
  • NP_001393975.1:p.Tyr266Ter
  • NP_001393976.1:p.Tyr225Ter
  • NP_001393977.1:p.Tyr266Ter
  • NP_001393978.1:p.Tyr266Ter
  • NP_001393979.1:p.Tyr225Ter
  • NP_001393980.1:p.Tyr12Ter
  • NP_077742.3:p.Tyr266Ter
  • NP_077743.2:p.Tyr261Ter
  • NP_077744.3:p.Tyr261Ter
  • NP_077744.4:p.Tyr266Ter
  • LRG_525t1:c.783C>G
  • LRG_525t2:c.147C>G
  • LRG_525:g.12497C>G
  • LRG_525p1:p.Tyr261Ter
  • LRG_525p2:p.Tyr49Ter
  • NC_000011.9:g.32449591G>C
  • NM_001198551.1:c.147C>G
  • NM_024426.3:c.783C>G
  • NR_160306.1:n.977C>G
  • NR_176266.1:n.977C>G
Protein change:
Y12*
Links:
dbSNP: rs2133073037
NCBI 1000 Genomes Browser:
rs2133073037
Molecular consequence:
  • NR_160306.1:n.977C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000378.6:c.798C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001198551.2:c.147C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001198552.2:c.147C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407044.1:c.798C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407045.1:c.798C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407046.1:c.798C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407047.1:c.675C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407048.1:c.798C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407049.1:c.798C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407050.1:c.675C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407051.1:c.36C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024424.5:c.798C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024425.2:c.783C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024426.6:c.798C>G - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001592521Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 13, 2020) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.

Royer-Pokora B, Beier M, Henzler M, Alam R, Schumacher V, Weirich A, Huff V.

Am J Med Genet A. 2004 Jun 15;127A(3):249-57.

PubMed [citation]
PMID:
15150775

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001592521.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in WT1 are known to be pathogenic (PMID: 15150775). This variant has not been reported in the literature in individuals with WT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr261*) in the WT1 gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Feb 28, 2024