NM_024426.6(WT1):c.530C>A (p.Ala177Asp) AND Drash syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 6, 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:: RCV003464888.1

Allele description [Variation Report for NM_024426.6(WT1):c.530C>A (p.Ala177Asp)]

NM_024426.6(WT1):c.530C>A (p.Ala177Asp)

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.530C>A (p.Ala177Asp)

HGVS:

NC_000011.10:g.32434831G>T
NG_009272.1:g.5711C>A
NG_050766.1:g.4084G>T
NG_050766.2:g.4763G>T
NM_000378.6:c.530C>A
NM_001407044.1:c.530C>A
NM_001407045.1:c.530C>A
NM_001407046.1:c.530C>A
NM_001407047.1:c.530C>A
NM_001407048.1:c.530C>A
NM_001407049.1:c.530C>A
NM_001407050.1:c.530C>A
NM_024424.5:c.530C>A
NM_024425.2:c.515C>A
NM_024426.6:c.530C>AMANE SELECT
NP_000369.4:p.Ala177Asp
NP_001393973.1:p.Ala177Asp
NP_001393974.1:p.Ala177Asp
NP_001393975.1:p.Ala177Asp
NP_001393976.1:p.Ala177Asp
NP_001393977.1:p.Ala177Asp
NP_001393978.1:p.Ala177Asp
NP_001393979.1:p.Ala177Asp
NP_077742.3:p.Ala177Asp
NP_077743.2:p.Ala172Asp
NP_077744.3:p.Ala172Asp
NP_077744.4:p.Ala177Asp
LRG_525t1:c.515C>A
LRG_525:g.5711C>A
LRG_525p1:p.Ala172Asp
NC_000011.9:g.32456377G>T
NM_024426.3:c.515C>A
NR_160306.1:n.709C>A
NR_176266.1:n.709C>A

Protein change:

A172D

Molecular consequence:

NM_000378.6:c.530C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407044.1:c.530C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407045.1:c.530C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407046.1:c.530C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407047.1:c.530C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407048.1:c.530C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407049.1:c.530C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407050.1:c.530C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024424.5:c.530C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024425.2:c.515C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024426.6:c.530C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_160306.1:n.709C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176266.1:n.709C>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
SCV004206921	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 6, 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

SCV004206921

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 6, 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, SCV004206921.1

#	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: Dec 30, 2023

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