NR_002196.1(H19):n.-7080_-1781del AND Wilms tumor 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2008
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000149876.3

Allele description [Variation Report for NR_002196.1(H19):n.-7080_-1781del]

NR_002196.1(H19):n.-7080_-1781del

Genes:

H19:H19 imprinted maternally expressed transcript [Gene - OMIM - HGNC]
H19-ICR:H19/IGF2 imprinting control region [Gene - OMIM]
MRPL23:mitochondrial ribosomal protein L23 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p15.5

Genomic location:

Chr11: 1999616 - 2004919 (on Assembly GRCh38)

Preferred name:

NR_002196.1(H19):n.-7080_-1781del

HGVS:

NC_000011.10:g.(1999616_1999620)_(2004915_2004919)del
AC123789.6:g.(77585_77589)_(82884_82888)del

Note:

A 5.3 kb deletion from the H19/IGF2 imprinting control region.

Nucleotide change:

5.3-KB DEL

Links:

dbVar: nssv7487189; dbVar: nsv1197591; OMIM: 616186.0002

Condition(s)

Name:: Wilms tumor 2 (WT2)
Synonyms:: Familial Wilms tumor 2
Identifiers:: MONDO: MONDO:0008680; MedGen: C3887743; Orphanet: 654; OMIM: 194071

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000196730	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2008)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000196730

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2008)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.

Scott RH, Douglas J, Baskcomb L, Huxter N, Barker K, Hanks S, Craft A, Gerrard M, Kohler JA, Levitt GA, Picton S, Pizer B, Ronghe MD, Williams D; Factors Associated with Childhood Tumours (FACT) Collaboration., Cook JA, Pujol P, Maher ER, Birch JM, Stiller CA, Pritchard-Jones K, Rahman N.

Nat Genet. 2008 Nov;40(11):1329-34. doi: 10.1038/ng.243. Epub 2008 Oct 5.

PubMed [citation]

PMID:: 18836444

Details of each submission

From OMIM, SCV000196730.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with isolated Wilms tumor (194071), Scott et al. (2008) identified a 5.3-kb deletion encompassing all but the telomeric 200 bp of the H19 DMR repeat block, resulting in hypermethylation. The mutation deleted 6 of 7 CTCF (604167) target sites. The mutation was inherited from the unaffected mother. A sib with overgrowth features of Beckwith-Wiedemann syndrome (130650) also carried the mutation.

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

Last Updated: Mar 26, 2023

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