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NM_024426.6(WT1):c.218A>T (p.Gln73Leu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 10, 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:
RCV002491099.1

Allele description [Variation Report for NM_024426.6(WT1):c.218A>T (p.Gln73Leu)]

NM_024426.6(WT1):c.218A>T (p.Gln73Leu)

Genes:
WT1:WT1 transcription factor [Gene - OMIM - HGNC]
LOC107982234:WT1/WT1-AS bi-directional promoter region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_024426.6(WT1):c.218A>T (p.Gln73Leu)
HGVS:
  • NC_000011.10:g.32435143T>A
  • NG_009272.1:g.5399A>T
  • NG_050766.1:g.4396T>A
  • NM_000378.6:c.218A>T
  • NM_024424.5:c.218A>T
  • NM_024426.6:c.218A>TMANE SELECT
  • NP_000369.4:p.Gln73Leu
  • NP_077742.3:p.Gln73Leu
  • NP_077744.4:p.Gln73Leu
  • LRG_525t1:c.203A>T
  • LRG_525:g.5399A>T
  • NC_000011.9:g.32456689T>A
  • NM_024426.3:c.203A>T
  • NM_024426.4:c.203A>T
  • NR_160306.1:n.397A>T
Protein change:
Q73L
Links:
dbSNP: rs1036899554
NCBI 1000 Genomes Browser:
rs1036899554
Molecular consequence:
  • NM_000378.6:c.218A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024424.5:c.218A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024426.6:c.218A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160306.1:n.397A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Aniridia 1 (AN1)
Identifiers:
MONDO: MONDO:0024507; MedGen: C0344542; Orphanet: 250923; OMIM: 106210
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:
Meacham syndrome
Synonyms:
Meacham Winn Culler syndrome
Identifiers:
MONDO: MONDO:0012164; MedGen: C1837026; Orphanet: 3097; OMIM: 608978
Name:
Mesothelioma, malignant (MESOM)
Synonyms:
Malignant mesothelioma (disease)
Identifiers:
MONDO: MONDO:0006292; MedGen: C0345967; Orphanet: 50251; OMIM: 156240; Human Phenotype Ontology: HP:0100001
Name:
Nephrotic syndrome, type 4 (NPHS4)
Synonyms:
Familial mesangial sclerosis; Nephrotic syndrome, early onset with diffuse mesangial sclerosis
Identifiers:
MONDO: MONDO:0009733; MedGen: C3151568; Orphanet: 656; OMIM: 256370
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
SCV002787229Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 10, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002787229.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024