NM_024426.6(WT1):c.1355-6_1355-5del AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 26, 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:: RCV003087510.2

Allele description [Variation Report for NM_024426.6(WT1):c.1355-6_1355-5del]

NM_024426.6(WT1):c.1355-6_1355-5del

Gene:

WT1:WT1 transcription factor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p13

Genomic location:

Preferred name:

NM_024426.6(WT1):c.1355-6_1355-5del

HGVS:

NC_000011.10:g.32392069_32392070del
NG_009272.1:g.48472_48473del
NM_000378.6:c.1304-6_1304-5del
NM_001198551.2:c.704-6_704-5del
NM_001198552.2:c.653-6_653-5del
NM_001367854.1:c.167-6_167-5del
NM_001407044.1:c.1349-6_1349-5del
NM_001407045.1:c.1304-6_1304-5del
NM_001407046.1:c.1354+596_1354+597del
NM_001407047.1:c.1232-6_1232-5del
NM_001407048.1:c.1214-6_1214-5del
NM_001407049.1:c.1303+596_1303+597del
NM_001407050.1:c.1181-6_1181-5del
NM_001407051.1:c.593-6_593-5del
NM_024424.5:c.1355-6_1355-5del
NM_024426.6:c.1355-6_1355-5delMANE SELECT
LRG_525:g.48472_48473del
NC_000011.9:g.32413615_32413616del

Molecular consequence:

NM_000378.6:c.1304-6_1304-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001198551.2:c.704-6_704-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001198552.2:c.653-6_653-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001367854.1:c.167-6_167-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407044.1:c.1349-6_1349-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407045.1:c.1304-6_1304-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407046.1:c.1354+596_1354+597del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407047.1:c.1232-6_1232-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407048.1:c.1214-6_1214-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407049.1:c.1303+596_1303+597del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407050.1:c.1181-6_1181-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407051.1:c.593-6_593-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_024424.5:c.1355-6_1355-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_024426.6:c.1355-6_1355-5del - intron variant - [Sequence Ontology: SO:0001627]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003473464	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Sep 26, 2022)	germline	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

SCV003473464

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Sep 26, 2022)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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, SCV003473464.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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