NM_024426.6(WT1):c.391C>A (p.Pro131Thr) AND Drash syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 24, 2023
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:: RCV003464439.1

Allele description [Variation Report for NM_024426.6(WT1):c.391C>A (p.Pro131Thr)]

NM_024426.6(WT1):c.391C>A (p.Pro131Thr)

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.391C>A (p.Pro131Thr)

HGVS:

NC_000011.10:g.32434970G>T
NG_009272.1:g.5572C>A
NG_050766.1:g.4223G>T
NM_000378.6:c.391C>A
NM_001407044.1:c.391C>A
NM_001407045.1:c.391C>A
NM_001407046.1:c.391C>A
NM_001407047.1:c.391C>A
NM_001407048.1:c.391C>A
NM_001407049.1:c.391C>A
NM_001407050.1:c.391C>A
NM_024424.5:c.391C>A
NM_024425.2:c.376C>A
NM_024426.6:c.391C>AMANE SELECT
NP_000369.4:p.Pro131Thr
NP_001393973.1:p.Pro131Thr
NP_001393974.1:p.Pro131Thr
NP_001393975.1:p.Pro131Thr
NP_001393976.1:p.Pro131Thr
NP_001393977.1:p.Pro131Thr
NP_001393978.1:p.Pro131Thr
NP_001393979.1:p.Pro131Thr
NP_077742.3:p.Pro131Thr
NP_077743.2:p.Pro126Thr
NP_077744.3:p.Pro126Thr
NP_077744.4:p.Pro131Thr
LRG_525t1:c.376C>A
LRG_525:g.5572C>A
LRG_525p1:p.Pro126Thr
NC_000011.9:g.32456516G>T
NM_024426.3:c.376C>A
NR_160306.1:n.570C>A
NR_176266.1:n.570C>A

Protein change:

P126T

Molecular consequence:

NM_000378.6:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407044.1:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407045.1:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407046.1:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407047.1:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407048.1:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407049.1:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407050.1:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024424.5:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024425.2:c.376C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024426.6:c.391C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_160306.1:n.570C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004208916	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 24, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004208916

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 24, 2023)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Baylor Genetics, SCV004208916.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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